Materiały źródłowe

• #1 Hemophilia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK551607/

  Hemophilia A and B are the most common severe hereditary hemorrhagic disorders. Hemophilia A and B result from factor VIII and factor IX protein deficiency. Patients present with prolonged bleeding with or without trauma, depending on the factor activity. […] The principal aim of care should be to avoid and treat bleeding. The patient should receive treatment in a comprehensive treatment center where interprofessional services are offered at all times to the patients and their families. […] This activity reviews the epidemiology, natural history, evaluation, and management of hemophilia and also highlights the role of the interprofessional team in evaluating, managing, and improving care for patients with this condition. […] The diagnosis of hemophilia combines an index of suspicion due to familial history and clinical manifestation, as well as laboratory testing. Screening tests are necessary for families with an active carrier status or for those who have a family history of excessive bleeding after trauma or after surgery or known bleeding disorders in the family. […] Genetic testing by chorionic villous sampling or amniocentesis is available during pregnancy and is usually reserved for families with a history of hemophilia. Genetic counseling is also an option for those families who want prenatal testing for hemophilia. […] Testing for hemophilia is sometimes by obtaining a blood sample from the umbilical cord or a vein of a newborn immediately after birth, and levels of clotting factors can be checked for patients with high suspicion for hemophilia or in those patients who have a significant family history of bleeding disorders.

• #2 What Is Hemophilia?

  https://my.clevelandclinic.org/health/diseases/14083-hemophilia

  Hemophilia is a rare, inherited blood disorder that causes your blood to clot less, which results in an increased risk of bleeding and bruising. […] Healthcare providers treat this condition by replacing the missing clotting factors. […] A healthcare provider will start by doing a complete history and physical examination. If you have hemophilia symptoms, your provider will ask about your family’s medical history. They may do the following tests: […] Healthcare providers treat hemophilia by boosting clotting factor levels or replacing missing clotting factors (replacement therapy). […] In replacement therapy, you receive human plasma concentrates or lab-made (recombinant) clotting factors. […] Healthcare providers categorize hemophilia as being mild, moderate or severe based on the levels or amount of clotting factors in your blood.

• #3 Hemophilia – Factor VIII or IX Deficiency | Choose the Right Test

  https://arupconsult.com/content/hemophilia

  Hemophilia A and hemophilia B are bleeding disorders caused by genetic variants in the F8 or F9 gene that result in deficiencies of factor VIII in hemophilia A or factor IX in hemophilia B, respectively. […] A workup for hemophilia typically involves tests such as prothrombin time (PT), activated partial thromboplastin time (aPTT), mixing studies, and factor assays to identify the factor deficiency. […] Hemophilia testing is warranted in individuals with spontaneous bleeding (particularly into joints, muscles, and soft tissues) or prolonged/excessive bleeding that is suggestive of a coagulation disorder. […] Initial testing for a coagulation disorder involves a CBC with platelet count, PT and aPTT, and fibrinogen tests. […] An aPTT that corrects with a mixing study suggests a factor deficiency, whereas an aPTT that does not correct with a mixing study suggests that an inhibitor is present.

• #4 Hemophilia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/hemophilia/diagnosis-treatment/drc-20373333

  Severe cases of hemophilia usually are diagnosed within the first year of life. Mild forms might not be apparent until adulthood. Some people learn they have hemophilia after they bleed excessively during a surgical procedure. […] Clotting-factor tests can reveal a clotting-factor deficiency and determine how severe the hemophilia is. […] For people with a family history of hemophilia, genetic testing might be used to identify carriers to make informed decisions about becoming pregnant. […] It’s also possible to determine during pregnancy if the fetus is affected by hemophilia. However, the testing poses some risks to the fetus. Discuss the benefits and risks of testing with your doctor.

• #5 Hemophilia diagnosis | Hemophilia News TodayEnvelope icon

  https://hemophilianewstoday.com/diagnosis-of-hemophilia/

  Hemophilia diagnosis and testing […] Blood tests that look for unusually low clotting factor activity are the main way to confirm a diagnosis of hemophilia. […] The only way to definitively diagnose hemophilia is through blood tests to confirm low levels of clotting factors. […] Clotting factor tests, also known as factor assays, measure the activity of clotting factor proteins in the blood. Since the different types of hemophilia are caused by deficiencies in specific clotting factors, these tests are the main method to definitively diagnose hemophilia and determine its exact type. […] About 30% of people with hemophilia have no family history of the disease. These patients usually are only diagnosed after they show specific signs that prompt testing.

• #6 Diagnosing Hemophilia in Children | NYU Langone Health

  https://nyulangone.org/conditions/hemophilia-in-children/diagnosis

  Hemophilia is a blood disorder that prevents blood from clotting properly. […] Doctors may suspect hemophilia if a newborn has excessive bleeding during medical procedures that are commonly performed after birth, such as circumcision or a blood draw to screen for other conditions. […] Doctors at Hassenfeld Childrens Hospital at NYU Langone can diagnose the condition while a child is in the womb, or during infancy or childhood. […] Doctors use blood tests to screen for and confirm a diagnosis of hemophilia. One preliminary blood test, called partial thromboplastin time, measures the amount of time it takes for a sample of your childs blood to clot. […] Doctors can confirm a diagnosis of hemophilia and determine the severity of the condition based on the levels of these factors.

• #7 Diagnosing Hemophilia A | Bleeding Disorders

  https://www.bleedingdisorders.com/hemophilia-a/diagnosis

  Learn about the specialty screening tests and evaluations required to diagnose hemophilia A. […] If a doctor suspects a patient may have hemophilia A, they will likely use blood tests (such as a complete blood test, coagulation tests, and measurement of factor levels) to help make a diagnosis. […] If blood clot formation is not within the normal range, then a clotting factor activity test is performed to confirm the diagnosis of hemophilia A or another blood-clotting factor deficiency. […] A healthcare provider may suspect hemophilia if there is a family history of abnormal bleeding. […] A doctor will ask you if you’re experiencing any symptoms or if there’s any family history of hemophilia A. […] Those who live with mild or moderate hemophilia A might not be diagnosed until later in life after an injury or procedure that causes prolonged bleeding.

• #8 Haemophilia diagnosis

  https://www.haemophilia.org.au/bleeding-disorders/haemophilia/haemophilia-diagnosis/

  Haemophilia is usually diagnosed through: The physical signs that a person has unusual bleeding problems. […] Checking the family history for bleeding problems. […] Laboratory tests on a blood sample for a persons clotting factor levels. […] Females may also need genetic testing to see if they have the gene alteration for haemophilia. […] The laboratory tests will show whether people have mild, moderate or severe haemophilia. […] If there is a family history of haemophilia, a sample of the babys blood can be tested after birth to check the factor VIII or IX levels and see whether the baby has haemophilia. Testing should be repeated when the baby is six months of age to confirm the results. Testing can also be done during pregnancy to determine if the baby has haemophilia. […] If there is no family history, children with severe haemophilia are usually diagnosed in the first year when their parents or health professionals notice unusual bruising or bleeding problems.

• #9 Hemophilia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/hemophilia/diagnosis-treatment/drc-20373333

  Severe cases of hemophilia usually are diagnosed within the first year of life. Mild forms might not be apparent until adulthood. Some people learn they have hemophilia after they bleed excessively during a surgical procedure. […] Clotting-factor tests can reveal a clotting-factor deficiency and determine how severe the hemophilia is. […] For people with a family history of hemophilia, genetic testing might be used to identify carriers to make informed decisions about becoming pregnant. […] It’s also possible to determine during pregnancy if the fetus is affected by hemophilia. However, the testing poses some risks to the fetus. Discuss the benefits and risks of testing with your doctor.

• #10 Diagnosing Hemophilia A | Bleeding Disorders

  https://www.bleedingdisorders.com/hemophilia-a/diagnosis

  Learn about the specialty screening tests and evaluations required to diagnose hemophilia A. […] If a doctor suspects a patient may have hemophilia A, they will likely use blood tests (such as a complete blood test, coagulation tests, and measurement of factor levels) to help make a diagnosis. […] If blood clot formation is not within the normal range, then a clotting factor activity test is performed to confirm the diagnosis of hemophilia A or another blood-clotting factor deficiency. […] A healthcare provider may suspect hemophilia if there is a family history of abnormal bleeding. […] A doctor will ask you if you’re experiencing any symptoms or if there’s any family history of hemophilia A. […] Those who live with mild or moderate hemophilia A might not be diagnosed until later in life after an injury or procedure that causes prolonged bleeding.

• #11 Hemophilia | Conditions | UCSF Health

  https://www.ucsfhealth.org/conditions/hemophilia

  Accurate diagnosis is essential for the optimal management of hemophilia. Testing for hemophilia should be performed at a highly experienced specialized coagulation laboratory. Laboratories that do not frequently perform these specialized tests may not be able to accurately establish a diagnosis. […] Most people with hemophilia are diagnosed at an early age. However, those with mild hemophilia may not be diagnosed until adulthood when they experience a bleeding episode due to trauma or surgery. […] Hemophilia is diagnosed with blood tests to determine if clotting factors are missing or at low levels, and which ones are causing the problem. If you have a family history of hemophilia, it is important that your doctors know the clotting factor your relatives are missing. You will probably be missing the same one.

• #12 Hemophilia diagnosis | Hemophilia News TodayEnvelope icon

  https://hemophilianewstoday.com/diagnosis-of-hemophilia/

  Hemophilia diagnosis and testing […] Blood tests that look for unusually low clotting factor activity are the main way to confirm a diagnosis of hemophilia. […] The only way to definitively diagnose hemophilia is through blood tests to confirm low levels of clotting factors. […] Clotting factor tests, also known as factor assays, measure the activity of clotting factor proteins in the blood. Since the different types of hemophilia are caused by deficiencies in specific clotting factors, these tests are the main method to definitively diagnose hemophilia and determine its exact type. […] About 30% of people with hemophilia have no family history of the disease. These patients usually are only diagnosed after they show specific signs that prompt testing.

• #13 Hemophilia A (Factor VIII Deficiency): Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/779322-overview

  Hemophilia A is an X-linked, recessive disorder caused by deficiency of functional plasma clotting factor VIII (FVIII), which may be inherited or arise from spontaneous mutation. […] Laboratory studies for suspected hemophilia include a complete blood cell count, coagulation studies, and an FVIII assay. In patients with an established diagnosis of hemophilia, periodic laboratory evaluations include screening for the presence of FVIII inhibitor and screening for transfusion-related or transmissible diseases such as hepatitis and HIV infection. Measurement of FVIII levels is important for monitoring FVIII replacement therapy. […] The treatment of hemophilia may involve prophylaxis, management of bleeding episodes, immune tolerance induction for patients with factor inhibitors, and treatment and rehabilitation of patients with hemophilia synovitis. Treatment of patients with hemophilia ideally should be provided through a comprehensive hemophilia care center.

• #14 Hemophilia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK551607/

  The initial laboratory work includes but is not limited to complete blood count, prothrombin time (PT), partial thromboplastin time (PTT), and bleeding time (BT). […] In both hemophilia A and B, PTT will be prolonged (intrinsic pathway disruption), whereas PT and BT will be normal. The PTT could be as prolonged as 2 to 3 times the high normal range. […] Once PTT is found to be prolonged, it should be followed by a mixing study. In a mixing study, the PTT should normalize if factor deficiency is suspected. After the mixing study, the next step should be factor VIII and IX assay. Hemophilia is usually diagnosed if the factor activity is less than 40% of normal factor activity. […] The hemophilia treatment strategy is primarily divided into two categories – management of acute bleeding and prophylaxis. […] The fundamental concept of management of a diagnosed or confirmed acute bleeding in hemophilia is to achieve quick and aggressive hemostasis, preferably within two hours of the onset of symptoms and correction of coagulopathy, but these measures should not be delayed even if diagnostic tests are pending or if physical symptoms are not present. […] Patients require hospitalization, and guidelines from the World Federation of Hemophilia should be followed for the management of acute bleeding.

• #15 Hemophilia – Factor VIII or IX Deficiency | Choose the Right Test

  https://arupconsult.com/content/hemophilia

  Hemophilia A and hemophilia B are bleeding disorders caused by genetic variants in the F8 or F9 gene that result in deficiencies of factor VIII in hemophilia A or factor IX in hemophilia B, respectively. […] A workup for hemophilia typically involves tests such as prothrombin time (PT), activated partial thromboplastin time (aPTT), mixing studies, and factor assays to identify the factor deficiency. […] Hemophilia testing is warranted in individuals with spontaneous bleeding (particularly into joints, muscles, and soft tissues) or prolonged/excessive bleeding that is suggestive of a coagulation disorder. […] Initial testing for a coagulation disorder involves a CBC with platelet count, PT and aPTT, and fibrinogen tests. […] An aPTT that corrects with a mixing study suggests a factor deficiency, whereas an aPTT that does not correct with a mixing study suggests that an inhibitor is present.

• #16 Hemophilia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK551607/

  The initial laboratory work includes but is not limited to complete blood count, prothrombin time (PT), partial thromboplastin time (PTT), and bleeding time (BT). […] In both hemophilia A and B, PTT will be prolonged (intrinsic pathway disruption), whereas PT and BT will be normal. The PTT could be as prolonged as 2 to 3 times the high normal range. […] Once PTT is found to be prolonged, it should be followed by a mixing study. In a mixing study, the PTT should normalize if factor deficiency is suspected. After the mixing study, the next step should be factor VIII and IX assay. Hemophilia is usually diagnosed if the factor activity is less than 40% of normal factor activity. […] The hemophilia treatment strategy is primarily divided into two categories – management of acute bleeding and prophylaxis. […] The fundamental concept of management of a diagnosed or confirmed acute bleeding in hemophilia is to achieve quick and aggressive hemostasis, preferably within two hours of the onset of symptoms and correction of coagulopathy, but these measures should not be delayed even if diagnostic tests are pending or if physical symptoms are not present. […] Patients require hospitalization, and guidelines from the World Federation of Hemophilia should be followed for the management of acute bleeding.

• #17 Hemophilia – Factor VIII or IX Deficiency | Choose the Right Test

  https://arupconsult.com/content/hemophilia

  Hemophilia A and hemophilia B are bleeding disorders caused by genetic variants in the F8 or F9 gene that result in deficiencies of factor VIII in hemophilia A or factor IX in hemophilia B, respectively. […] A workup for hemophilia typically involves tests such as prothrombin time (PT), activated partial thromboplastin time (aPTT), mixing studies, and factor assays to identify the factor deficiency. […] Hemophilia testing is warranted in individuals with spontaneous bleeding (particularly into joints, muscles, and soft tissues) or prolonged/excessive bleeding that is suggestive of a coagulation disorder. […] Initial testing for a coagulation disorder involves a CBC with platelet count, PT and aPTT, and fibrinogen tests. […] An aPTT that corrects with a mixing study suggests a factor deficiency, whereas an aPTT that does not correct with a mixing study suggests that an inhibitor is present.

• #18 Hemophilia Labs: Clotting Factor Tests, APTT, PT, and more

  https://www.healthline.com/health/hemophilia-labs

  Diagnosing hemophilia involves a series of blood tests that check the activity of various clotting factors in your blood. […] If a doctor suspects that you have hemophilia, several lab tests can help confirm the diagnosis. Most tests to diagnose this condition require a blood draw. […] Clotting factor tests, also known as factor assays, are the main tests that doctors use to diagnose hemophilia. They test for the presence of various clotting factors, which are proteins that help your blood clot. […] Clotting factor tests measure the levels of clotting factors VIII and IX in your blood. These tests can also determine the severity of hemophilia. […] The activated partial thromboplastin time (APTT) test evaluates how long it takes your blood to clot. Doctors often use it to detect bleeding disorders, including hemophilia.

• #19 Hemophilia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK551607/

  The initial laboratory work includes but is not limited to complete blood count, prothrombin time (PT), partial thromboplastin time (PTT), and bleeding time (BT). […] In both hemophilia A and B, PTT will be prolonged (intrinsic pathway disruption), whereas PT and BT will be normal. The PTT could be as prolonged as 2 to 3 times the high normal range. […] Once PTT is found to be prolonged, it should be followed by a mixing study. In a mixing study, the PTT should normalize if factor deficiency is suspected. After the mixing study, the next step should be factor VIII and IX assay. Hemophilia is usually diagnosed if the factor activity is less than 40% of normal factor activity. […] The hemophilia treatment strategy is primarily divided into two categories – management of acute bleeding and prophylaxis. […] The fundamental concept of management of a diagnosed or confirmed acute bleeding in hemophilia is to achieve quick and aggressive hemostasis, preferably within two hours of the onset of symptoms and correction of coagulopathy, but these measures should not be delayed even if diagnostic tests are pending or if physical symptoms are not present. […] Patients require hospitalization, and guidelines from the World Federation of Hemophilia should be followed for the management of acute bleeding.

• #20 Hemophilia diagnostic study of choice – wikidoc

  https://www.wikidoc.org/index.php/Hemophilia_diagnostic_study_of_choice

  Coagulation tests and coagulation assays are the gold standard for the diagnosis of hemophilia. Prolonged activated partial thromboplastin time (aPTT), normal prothrombin time (PT), prolonged bleeding time (BT), and normal fibrinogen concentration are diagnostic of hemophilia. […] The following result of the coagulation tests and coagulation assays is confirmatory of hemophilia: Prolonged activated partial thromboplastin time (aPTT) […] Normal prothrombin time (PT) […] Normal fibrinogen concentration […] Prolonged bleeding time (BT) […] Deficiency or complete absence of clotting factor VIII or IX.

• #21 Hemophilia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK551607/

  The initial laboratory work includes but is not limited to complete blood count, prothrombin time (PT), partial thromboplastin time (PTT), and bleeding time (BT). […] In both hemophilia A and B, PTT will be prolonged (intrinsic pathway disruption), whereas PT and BT will be normal. The PTT could be as prolonged as 2 to 3 times the high normal range. […] Once PTT is found to be prolonged, it should be followed by a mixing study. In a mixing study, the PTT should normalize if factor deficiency is suspected. After the mixing study, the next step should be factor VIII and IX assay. Hemophilia is usually diagnosed if the factor activity is less than 40% of normal factor activity. […] The hemophilia treatment strategy is primarily divided into two categories – management of acute bleeding and prophylaxis. […] The fundamental concept of management of a diagnosed or confirmed acute bleeding in hemophilia is to achieve quick and aggressive hemostasis, preferably within two hours of the onset of symptoms and correction of coagulopathy, but these measures should not be delayed even if diagnostic tests are pending or if physical symptoms are not present. […] Patients require hospitalization, and guidelines from the World Federation of Hemophilia should be followed for the management of acute bleeding.

• #22 Hemophilia – Treatment and Diagnosis | Mount Sinai – New York

  https://www.mountsinai.org/care/cancer/services/benign-hematology/hemophilia

  Hemophilia is an inherited bleeding disorder in which the blood does not clot normally. Hemophilia A, also known as classical hemophilia, is caused by having low levels of a protein called clotting factor VIII. Hemophilia B, also known as Christmas disease, is caused by having low levels of clotting factor IX. […] Hemophilia can be diagnosed by a blood test, which may be done if other family members have the condition. […] Diagnosis is determined by screening blood tests and specific clotting factor assay tests. Screening blood tests show if the blood is clotting properly and specific clotting factor tests indicate the type of hemophilia (A or B) and the severity. […] If the APTT is longer than normal, a test called an APTT Mixing Study is done. If the results of the APTT Mixing Study indicate that the level of one of the clotting factors may be low, specific testing for each clotting factor can be performed to determine the activity level. If the Factor VIII level is low, the individual may have Hemophilia A and if the Factor IX level is low, the individual may have Hemophilia B. These clotting factor tests also indicate the severity of the deficiency.

• #23 Hemophilia diagnosis | Hemophilia News TodayEnvelope icon

  https://hemophilianewstoday.com/diagnosis-of-hemophilia/

  Hemophilia diagnosis and testing […] Blood tests that look for unusually low clotting factor activity are the main way to confirm a diagnosis of hemophilia. […] The only way to definitively diagnose hemophilia is through blood tests to confirm low levels of clotting factors. […] Clotting factor tests, also known as factor assays, measure the activity of clotting factor proteins in the blood. Since the different types of hemophilia are caused by deficiencies in specific clotting factors, these tests are the main method to definitively diagnose hemophilia and determine its exact type. […] About 30% of people with hemophilia have no family history of the disease. These patients usually are only diagnosed after they show specific signs that prompt testing.

• #24 Diagnosing Hemophilia A | Bleeding Disorders

  https://www.bleedingdisorders.com/hemophilia-a/diagnosis

  Next, your doctor will run a few blood-clotting tests, like the ones below: […] These tests tell your doctor the hemophilia type and severity. […] Your doctor may also run genetic testing to learn about any chance of developing hemophilia A inhibitors later down the line. […] Gene mutations that can identify female hemophilia A carriers (this can be extremely helpful before and after a baby’s delivery).

• #25 Hemophilia Labs: Clotting Factor Tests, APTT, PT, and more

  https://www.healthline.com/health/hemophilia-labs

  Diagnosing hemophilia involves a series of blood tests that check the activity of various clotting factors in your blood. […] If a doctor suspects that you have hemophilia, several lab tests can help confirm the diagnosis. Most tests to diagnose this condition require a blood draw. […] Clotting factor tests, also known as factor assays, are the main tests that doctors use to diagnose hemophilia. They test for the presence of various clotting factors, which are proteins that help your blood clot. […] Clotting factor tests measure the levels of clotting factors VIII and IX in your blood. These tests can also determine the severity of hemophilia. […] The activated partial thromboplastin time (APTT) test evaluates how long it takes your blood to clot. Doctors often use it to detect bleeding disorders, including hemophilia.

• #26 Hemophilia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK551607/

  The initial laboratory work includes but is not limited to complete blood count, prothrombin time (PT), partial thromboplastin time (PTT), and bleeding time (BT). […] In both hemophilia A and B, PTT will be prolonged (intrinsic pathway disruption), whereas PT and BT will be normal. The PTT could be as prolonged as 2 to 3 times the high normal range. […] Once PTT is found to be prolonged, it should be followed by a mixing study. In a mixing study, the PTT should normalize if factor deficiency is suspected. After the mixing study, the next step should be factor VIII and IX assay. Hemophilia is usually diagnosed if the factor activity is less than 40% of normal factor activity. […] The hemophilia treatment strategy is primarily divided into two categories – management of acute bleeding and prophylaxis. […] The fundamental concept of management of a diagnosed or confirmed acute bleeding in hemophilia is to achieve quick and aggressive hemostasis, preferably within two hours of the onset of symptoms and correction of coagulopathy, but these measures should not be delayed even if diagnostic tests are pending or if physical symptoms are not present. […] Patients require hospitalization, and guidelines from the World Federation of Hemophilia should be followed for the management of acute bleeding.

• #27 Hemophilia: Types, Causes, Symptoms, and Diagnosis

  https://www.healthline.com/health/hemophilia

  Hemophilia is an inherited blood disorder in which your blood does not clot properly. This can cause you to bleed more easily and sometimes lead to excessive bleeding, even from minor cuts or injuries. […] Hemophilia is an inherited genetic condition. There is no cure for hemophilia, but treatment could help you manage symptoms and prevent future health complications. […] A doctor can diagnose hemophilia by examining your family and medical history and through a blood test. […] A doctor will remove a small sample of blood from your vein and measure the amount of clotting factor present. The sample is then graded to determine the severity of the factor deficiency and the severity of the condition. […] Hemophilia A severity levels include: Mild: factor levels are between 6% and 30% (about 25% of all cases)

• #28 Hemophilia: Types, Causes, Symptoms, and Diagnosis

  https://www.healthline.com/health/hemophilia

  Moderate: factor levels are between 1% and 5% (about 15% of all cases) […] Severe: factor levels are less than 1% (about 60% of all cases) […] Hemophilia B severity levels include: Mild: factor levels are between 6% and 49% […] Moderate: factor levels are between 1% and 5% […] Severe: factor levels are less than 1%. […] The most common treatment for hemophilia is clotting factor injections to help increase the levels in your blood. Other treatments may include monoclonal antibodies, non-factor replacement therapies, and gene therapies. […] Treatment focuses on replacing clotting factors to prevent future issues with bleeding. A doctor may also recommend additional therapies as needed.

• #29 Hemophilia A (Factor VIII Deficiency) Workup: Approach Considerations, Testing for Inhibitors, Carrier Testing and Fetal Testing

  https://emedicine.medscape.com/article/779322-workup

  Laboratory studies for suspected hemophilia include a complete blood cell count, coagulation studies, and a factor VIII (FVIII) assay. Never delay indicated coagulation correction pending diagnostic testing. […] Usually, the activated partial thromboplastin time (aPTT) is prolonged; however, a normal aPTT does not exclude mild or even moderate hemophilia because of the relative insensitivity of the test. The aPTT is significantly prolonged in severe hemophilia. […] For FVIII assays, levels are compared with a normal pooled-plasma standard, which is designated as having 100% activity or the equivalent of FVIII U/mL. Normal values are 50-150%. Values in hemophilia are as follows: Mild: 5%, Moderate: 1-5%, Severe: 1%. […] Differentiation of hemophilia A from von Willebrand disease is possible by observing normal or elevated levels of von Willebrand factor antigen and ristocetin cofactor activity.

• #30 Hemophilia – Hematology and Oncology – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/hematology-and-oncology/coagulation-disorders/hemophilia

  Hemophilia is suspected in patients with recurrent bleeding, unexplained hemarthroses, or a prolongation of the PTT. If hemophilia is suspected, PTT, PT, platelet count, and factor VIII and IX assays are obtained. In hemophilia, the PTT is prolonged, but the PT and platelet count are normal. […] Factor VIII and IX assays determine the type and severity of the hemophilia. Because factor VIII levels may also be reduced in von Willebrand disease, von Willebrand factor (VWF) activity, VWF antigen, and VWF multimer composition are measured in patients with newly diagnosed hemophilia A, particularly if the disorder is mild and a family history indicates that both male and female family members are affected. Determining if a female is a true carrier of hemophilia A is sometimes possible by measuring the factor VIII level. Similarly, measuring the factor IX level often identifies a carrier of hemophilia B. Definitive diagnosis requires genetic testing.

• #31 Hemophilia A (Factor VIII Deficiency) Workup: Approach Considerations, Testing for Inhibitors, Carrier Testing and Fetal Testing

  https://emedicine.medscape.com/article/779322-workup

  Laboratory studies for suspected hemophilia include a complete blood cell count, coagulation studies, and a factor VIII (FVIII) assay. Never delay indicated coagulation correction pending diagnostic testing. […] Usually, the activated partial thromboplastin time (aPTT) is prolonged; however, a normal aPTT does not exclude mild or even moderate hemophilia because of the relative insensitivity of the test. The aPTT is significantly prolonged in severe hemophilia. […] For FVIII assays, levels are compared with a normal pooled-plasma standard, which is designated as having 100% activity or the equivalent of FVIII U/mL. Normal values are 50-150%. Values in hemophilia are as follows: Mild: 5%, Moderate: 1-5%, Severe: 1%. […] Differentiation of hemophilia A from von Willebrand disease is possible by observing normal or elevated levels of von Willebrand factor antigen and ristocetin cofactor activity.

• #32 Hemophilia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/hemophilia/diagnosis-treatment/drc-20373333

  Severe cases of hemophilia usually are diagnosed within the first year of life. Mild forms might not be apparent until adulthood. Some people learn they have hemophilia after they bleed excessively during a surgical procedure. […] Clotting-factor tests can reveal a clotting-factor deficiency and determine how severe the hemophilia is. […] For people with a family history of hemophilia, genetic testing might be used to identify carriers to make informed decisions about becoming pregnant. […] It’s also possible to determine during pregnancy if the fetus is affected by hemophilia. However, the testing poses some risks to the fetus. Discuss the benefits and risks of testing with your doctor.

• #33 Hemophilia – Factor VIII or IX Deficiency | Choose the Right Test

  https://arupconsult.com/content/hemophilia

  Factor assays are traditionally performed using clot-based tests and are used to confirm the diagnosis of hemophilia and to classify hemophilia severity by demonstrating factor VIII or factor IX deficiency. […] In patients with a family history of hemophilia, individual patient risk should be calculated by a clinical geneticist based on laboratory results and family history. Genetic testing can confirm the presence of the causative F8 or F9 gene variant in affected individuals, allows for targeted testing of documented familial mutations, and can determine carrier status in girls or women at risk. […] In utero genetic testing (third-trimester amniocentesis) can be performed to determine whether hemophilia is present in male fetuses. […] Individuals receiving treatment for hemophilia are at risk for the development of inhibitors. Monitoring is required because clinical signs do not necessarily accompany inhibitor development. […] Screening for hemophilia-specific comorbidities has become more important because patients with hemophilia are living longer.

• #34 Hemophilia – Factor VIII or IX Deficiency | Choose the Right Test

  https://arupconsult.com/content/hemophilia

  Factor assays are traditionally performed using clot-based tests and are used to confirm the diagnosis of hemophilia and to classify hemophilia severity by demonstrating factor VIII or factor IX deficiency. […] In patients with a family history of hemophilia, individual patient risk should be calculated by a clinical geneticist based on laboratory results and family history. Genetic testing can confirm the presence of the causative F8 or F9 gene variant in affected individuals, allows for targeted testing of documented familial mutations, and can determine carrier status in girls or women at risk. […] In utero genetic testing (third-trimester amniocentesis) can be performed to determine whether hemophilia is present in male fetuses. […] Individuals receiving treatment for hemophilia are at risk for the development of inhibitors. Monitoring is required because clinical signs do not necessarily accompany inhibitor development. […] Screening for hemophilia-specific comorbidities has become more important because patients with hemophilia are living longer.

• #35 Hemophilia | Conditions | UCSF Health

  https://www.ucsfhealth.org/conditions/hemophilia

  If you know you are a carrier of hemophilia, the testing for hemophilia in your newborn usually occurs soon after birth. These tests can be run on blood obtained from the umbilical cord or drawn from the newborn’s vein. You may be advised to delay some procedures, such as circumcision, until after you learn whether your child has hemophilia. […] Some families with a history of hemophilia may want to request prenatal testing, or testing before birth. This testing can be done early in pregnancy, allowing your family to make informed decisions and preparations. UCSF has genetic counselors who are available to help you with prenatal testing, if desired. […] If you are pregnant and think you could be a carrier, or if you have a child diagnosed with hemophilia and are expecting another child, it is important to tell your obstetrician. […] There are three ways to determine if you are a carrier: […] A DNA test can look for the mutation that caused hemophilia in your son or another relative, and compare it to your DNA.

• #36 Diagnosis and Treatment of Hemophilia – Hematology & Oncology

  https://www.hematologyandoncology.net/archives/june-2019/diagnosis-and-treatment-of-hemophilia/

  Abstract: Hemophilia A and B are inherited bleeding disorders characterized by deficiency or dysfunction of coagulation protein factors VIII and IX, respectively. […] The diagnosis of hemophilia is relatively straightforward and when it is suspected, measurement of FVIII or FIX clotting activity will nearly always reveal the diagnosis. […] Hemophilia is classified into 3 main forms: severe, moderate, and mild, depending on the residual coagulant activity in blood (FVIII:C/FIX:C; Table 1). […] Identification of the gene mutation is also important because it may help prognosticate the risk of inhibitor formation, and can also identify female relatives who might be carriers. […] The development of alloantibodies neutralizing factor VIII/IX coagulant activity (inhibitors) represents the main complication of factor treatment of hemophilia, occurring in approximately one-third of previously untreated patients with hemophilia A and in approximately 1% to 5% of those with hemophilia B. […] The goal of gene therapy is to cure hemophilia such that patients no longer need to be concerned about bleeding, and do not need any factor replacement therapy. […] Over the past 50 years, the diagnosis and treatment of hemophilia have improved considerably.

• #37 Diagnosis and Treatment of Hemophilia – Hematology & Oncology

  https://www.hematologyandoncology.net/archives/june-2019/diagnosis-and-treatment-of-hemophilia/

  Abstract: Hemophilia A and B are inherited bleeding disorders characterized by deficiency or dysfunction of coagulation protein factors VIII and IX, respectively. […] The diagnosis of hemophilia is relatively straightforward and when it is suspected, measurement of FVIII or FIX clotting activity will nearly always reveal the diagnosis. […] Hemophilia is classified into 3 main forms: severe, moderate, and mild, depending on the residual coagulant activity in blood (FVIII:C/FIX:C; Table 1). […] Identification of the gene mutation is also important because it may help prognosticate the risk of inhibitor formation, and can also identify female relatives who might be carriers. […] The development of alloantibodies neutralizing factor VIII/IX coagulant activity (inhibitors) represents the main complication of factor treatment of hemophilia, occurring in approximately one-third of previously untreated patients with hemophilia A and in approximately 1% to 5% of those with hemophilia B. […] The goal of gene therapy is to cure hemophilia such that patients no longer need to be concerned about bleeding, and do not need any factor replacement therapy. […] Over the past 50 years, the diagnosis and treatment of hemophilia have improved considerably.

• #38 Hemophilia A (Factor VIII Deficiency) Workup: Approach Considerations, Testing for Inhibitors, Carrier Testing and Fetal Testing

  https://emedicine.medscape.com/article/779322-workup

  Direct genetic testing for known gene mutation is a more accurate screening technique. […] For prenatal testing, carriers whose mutation has been identified can have chorionic villus sampling at approximately 10-12 weeks’ gestation or amniocentesis at 16-20 weeks’ gestation to obtain fetal cells for DNA analysis or for linkage studies. […] These procedures should be undertaken only after patients have received intense genetic and obstetric counseling.

• #39 GNHMB – Overview: Hemophilia B, F9 Gene, Next-Generation Sequencing, Varies

  https://www.mayocliniclabs.com/test-catalog/Overview/619117

  Confirming a clinical diagnosis of hemophilia B in affected male patients with the identification of a disease-causing variant in the F9 gene […] Determining the disease-causing alteration within the F9 gene to delineate the underlying molecular defect in a male patient with a laboratory diagnosis of hemophilia B […] Identifying the causative alteration for prognostic and genetic counseling purposes […] Assessing hemophilia B carrier status for female patients with a family history of hemophilia B […] Prenatal testing for hemophilia B when a familial F9 variant has been previously identified in a family member […] This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in the F9 gene associated with hemophilia B (also known as factor IX deficiency)

• #40 GNHMB – Overview: Hemophilia B, F9 Gene, Next-Generation Sequencing, Varies

  https://www.mayocliniclabs.com/test-catalog/Overview/619117

  Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for hemophilia B […] The clinical workup for hemophilia B in symptomatic male patients should begin with special coagulation testing for factor IX (FIX) activity […] Genetic testing is indicated if FIX activity is less than 40% of normal […] FIX clotting activity does not correlate as well with bleeding severity in female patients, and therefore is unreliable in the detection of female carriers of hemophilia B […] Carrier status is determined by identification of a heterozygous disease-causing variant in F9 by molecular genetic testing […] Acquired (nongenetic) causes of hemophilia B that should be excluded prior to genetic testing include vitamin K deficiency autoimmune disorders, malignancy, and infections such as HIV and hepatitis B

• #41 GNHMB – Overview: Hemophilia B, F9 Gene, Next-Generation Sequencing, Varies

  https://www.mayocliniclabs.com/test-catalog/Overview/619117

  Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for hemophilia B […] The clinical workup for hemophilia B in symptomatic male patients should begin with special coagulation testing for factor IX (FIX) activity […] Genetic testing is indicated if FIX activity is less than 40% of normal […] FIX clotting activity does not correlate as well with bleeding severity in female patients, and therefore is unreliable in the detection of female carriers of hemophilia B […] Carrier status is determined by identification of a heterozygous disease-causing variant in F9 by molecular genetic testing […] Acquired (nongenetic) causes of hemophilia B that should be excluded prior to genetic testing include vitamin K deficiency autoimmune disorders, malignancy, and infections such as HIV and hepatitis B

• #42 Hemophilia | Conditions | UCSF Health

  https://www.ucsfhealth.org/conditions/hemophilia

  If you know you are a carrier of hemophilia, the testing for hemophilia in your newborn usually occurs soon after birth. These tests can be run on blood obtained from the umbilical cord or drawn from the newborn’s vein. You may be advised to delay some procedures, such as circumcision, until after you learn whether your child has hemophilia. […] Some families with a history of hemophilia may want to request prenatal testing, or testing before birth. This testing can be done early in pregnancy, allowing your family to make informed decisions and preparations. UCSF has genetic counselors who are available to help you with prenatal testing, if desired. […] If you are pregnant and think you could be a carrier, or if you have a child diagnosed with hemophilia and are expecting another child, it is important to tell your obstetrician. […] There are three ways to determine if you are a carrier: […] A DNA test can look for the mutation that caused hemophilia in your son or another relative, and compare it to your DNA.

• #43 Hemophilia A (Factor VIII Deficiency) Workup: Approach Considerations, Testing for Inhibitors, Carrier Testing and Fetal Testing

  https://emedicine.medscape.com/article/779322-workup

  In patients with an established diagnosis of hemophilia, periodic laboratory evaluations include screening for the presence of FVIII inhibitor and screening for transfusion-related or transmissible diseases such as hepatitis and HIV infection. […] Laboratory confirmation of an FVIII inhibitor is clinically important when a bleeding episode is not controlled despite infusion of adequate amounts of factor concentrate. […] By convention, 0.6 Bethesda units (BU) or greater is considered a positive result for an inhibitor. Less than 5 BU is considered a low titer of inhibitor, and more than that is a high titer. […] Screening for carrier status can be performed by measuring the ratio of FVIII coagulant activity to the concentration of vWF antigen. A ratio that is less than 0.7 suggests carrier status.

• #44 Hemophilia Carrier

  https://www.nationwidechildrens.org/conditions/hemophilia-carrier

  There are 2 blood tests to see if you carry the hemophilia gene. […] Factor levels test This is done to see how much clotting factors (proteins) are in your blood. If there is a low amount, you may carry the gene. […] Genetic test This can confirm if you or your child carries the hemophilia gene.

• #45 Hemophilia – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/hemophilia/symptoms-causes/syc-20373327

  Most women with the defective gene are carriers who have no signs or symptoms of hemophilia. But some carriers can have bleeding symptoms if their clotting factors are moderately decreased. […] The biggest risk factor for hemophilia is to have family members who also have the disorder. […] Complications of hemophilia can include deep internal bleeding, bleeding into the throat or neck, damage to joints, infection, and adverse reaction to clotting factor treatment.

• #46 Hemophilia – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/hemophilia/diagnosis-treatment/drc-20373333

  Severe cases of hemophilia usually are diagnosed within the first year of life. Mild forms might not be apparent until adulthood. Some people learn they have hemophilia after they bleed excessively during a surgical procedure. […] Clotting-factor tests can reveal a clotting-factor deficiency and determine how severe the hemophilia is. […] For people with a family history of hemophilia, genetic testing might be used to identify carriers to make informed decisions about becoming pregnant. […] It’s also possible to determine during pregnancy if the fetus is affected by hemophilia. However, the testing poses some risks to the fetus. Discuss the benefits and risks of testing with your doctor.

• #47 Hemophilia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK551607/

  Hemophilia A and B are the most common severe hereditary hemorrhagic disorders. Hemophilia A and B result from factor VIII and factor IX protein deficiency. Patients present with prolonged bleeding with or without trauma, depending on the factor activity. […] The principal aim of care should be to avoid and treat bleeding. The patient should receive treatment in a comprehensive treatment center where interprofessional services are offered at all times to the patients and their families. […] This activity reviews the epidemiology, natural history, evaluation, and management of hemophilia and also highlights the role of the interprofessional team in evaluating, managing, and improving care for patients with this condition. […] The diagnosis of hemophilia combines an index of suspicion due to familial history and clinical manifestation, as well as laboratory testing. Screening tests are necessary for families with an active carrier status or for those who have a family history of excessive bleeding after trauma or after surgery or known bleeding disorders in the family. […] Genetic testing by chorionic villous sampling or amniocentesis is available during pregnancy and is usually reserved for families with a history of hemophilia. Genetic counseling is also an option for those families who want prenatal testing for hemophilia. […] Testing for hemophilia is sometimes by obtaining a blood sample from the umbilical cord or a vein of a newborn immediately after birth, and levels of clotting factors can be checked for patients with high suspicion for hemophilia or in those patients who have a significant family history of bleeding disorders.

• #48 Hemophilia A (Factor VIII Deficiency) Workup: Approach Considerations, Testing for Inhibitors, Carrier Testing and Fetal Testing

  https://emedicine.medscape.com/article/779322-workup

  Direct genetic testing for known gene mutation is a more accurate screening technique. […] For prenatal testing, carriers whose mutation has been identified can have chorionic villus sampling at approximately 10-12 weeks’ gestation or amniocentesis at 16-20 weeks’ gestation to obtain fetal cells for DNA analysis or for linkage studies. […] These procedures should be undertaken only after patients have received intense genetic and obstetric counseling.

• #49 Haemophilia – Wikipedia

  https://en.wikipedia.org/wiki/Haemophilia

  Haemophilia can be diagnosed before, during or after birth if there is a family history of the condition. Several options are available to parents. If there is no family history of haemophilia, it is usually only diagnosed when a child begins to walk or crawl. Affected children may experience joint bleeds or easy bruising. […] Mild haemophilia may only be discovered later, usually after an injury or a dental or surgical procedure. […] Genetic testing and counselling are available to help determine the risk of passing the condition onto a child. This may involve testing a sample of tissue or blood to look for signs of the genetic mutation that causes haemophilia. […] A pregnant woman with a history of haemophilia in her family can test for the haemophilia gene. Such tests include: chorionic villus sampling (CVS): a small sample of the placenta is removed from the womb and tested for the haemophilia gene, usually during weeks 11-14 of pregnancy; amniocentesis: a sample of amniotic fluid is taken for testing, usually during weeks 15-20 of pregnancy.

• #50 Prenatal Diagnosis of Hemophilia A and B

  https://austinpublishinggroup.com/molecular-biology/fulltext/jmbmi-v1-id1006.php

  Hemophilia A and B are inherited X-linked recessive bleeding disorder caused by deficiency of coagulation factor VIII (FVIII) or FIX. […] Prenatal diagnosis aided by carrier detection is used extensively for the prevention of affected hemophilic child in developing countries. The diagnosis can be done using the direct method of mutation analysis or the indirect method of linkage analysis in the respective FVIII or FIX gene. […] Prenatal diagnosis must be preceded by adequate genetic counseling and risk assessment of the potential carrier and subsequent support during the diagnostic process. […] Establishing the diagnosis of hemophilia in a proband requires measurement of factor VIII/IX clotting activity. Molecular genetic testing is performed on a proband to detect the family-specific mutation in order to obtain information for genetic counseling of at-risk family members. Carrier testing for at-risk relatives requires prior identification of the disease causing mutations in the family. Prenatal diagnosis for at-risk pregnancies requires prior identification of the disease-causing mutation in the family.

• #51 Hemophilia A (Factor VIII Deficiency) Workup: Approach Considerations, Testing for Inhibitors, Carrier Testing and Fetal Testing

  https://emedicine.medscape.com/article/779322-workup

  Direct genetic testing for known gene mutation is a more accurate screening technique. […] For prenatal testing, carriers whose mutation has been identified can have chorionic villus sampling at approximately 10-12 weeks’ gestation or amniocentesis at 16-20 weeks’ gestation to obtain fetal cells for DNA analysis or for linkage studies. […] These procedures should be undertaken only after patients have received intense genetic and obstetric counseling.

• #52 Hemophilia – Hematology and Oncology – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/hematology-and-oncology/coagulation-disorders/hemophilia

  Polymerase chain reaction (PCR) analysis of DNA that comprises the factor VIII or factor IX gene, available at specialized centers, can be used for diagnosis of the hemophilia A or B carrier state and for prenatal diagnosis of hemophilia A or B by chorionic villus sampling at 12 weeks or amniocentesis at 16 weeks. These procedures carry a 0.5 to 1% risk of miscarriage. Studies of cell-free fetal DNA in maternal blood have shown promise as a noninvasive method to screen for hemophilia. […] After repeated exposure to factor VIII or IX replacement, about 30% of patients with severe hemophilia A and 3% with hemophilia B develop factor VIII or factor IX isoantibodies (alloantibodies) that inhibit the coagulant activity of any additional factor VIII or factor IX infused. Thus, patients should be screened for isoantibodies, especially before an elective procedure that requires replacement therapy. If isoantibodies are present, their titers can be measured by determining the extent of factor VIII or factor IX inhibition by serial dilutions of patient plasma.

• #53 Hemophilia | Conditions | UCSF Health

  https://www.ucsfhealth.org/conditions/hemophilia

  If you know you are a carrier of hemophilia, the testing for hemophilia in your newborn usually occurs soon after birth. These tests can be run on blood obtained from the umbilical cord or drawn from the newborn’s vein. You may be advised to delay some procedures, such as circumcision, until after you learn whether your child has hemophilia. […] Some families with a history of hemophilia may want to request prenatal testing, or testing before birth. This testing can be done early in pregnancy, allowing your family to make informed decisions and preparations. UCSF has genetic counselors who are available to help you with prenatal testing, if desired. […] If you are pregnant and think you could be a carrier, or if you have a child diagnosed with hemophilia and are expecting another child, it is important to tell your obstetrician. […] There are three ways to determine if you are a carrier: […] A DNA test can look for the mutation that caused hemophilia in your son or another relative, and compare it to your DNA.

• #54 Haemophilia diagnosis

  https://www.haemophilia.org.au/bleeding-disorders/haemophilia/haemophilia-diagnosis/

  Haemophilia is usually diagnosed through: The physical signs that a person has unusual bleeding problems. […] Checking the family history for bleeding problems. […] Laboratory tests on a blood sample for a persons clotting factor levels. […] Females may also need genetic testing to see if they have the gene alteration for haemophilia. […] The laboratory tests will show whether people have mild, moderate or severe haemophilia. […] If there is a family history of haemophilia, a sample of the babys blood can be tested after birth to check the factor VIII or IX levels and see whether the baby has haemophilia. Testing should be repeated when the baby is six months of age to confirm the results. Testing can also be done during pregnancy to determine if the baby has haemophilia. […] If there is no family history, children with severe haemophilia are usually diagnosed in the first year when their parents or health professionals notice unusual bruising or bleeding problems.

• #55 Haemophilia – Wikipedia

  https://en.wikipedia.org/wiki/Haemophilia

  If haemophilia is suspected after a child has been born, a blood test can usually confirm the diagnosis. Blood from the umbilical cord can be tested at birth if there’s a family history of haemophilia. A blood test will also be able to identify whether a child has haemophilia A or B, and how severe it is.

• #56 Hemophilia | Conditions | UCSF Health

  https://www.ucsfhealth.org/conditions/hemophilia

  If you know you are a carrier of hemophilia, the testing for hemophilia in your newborn usually occurs soon after birth. These tests can be run on blood obtained from the umbilical cord or drawn from the newborn’s vein. You may be advised to delay some procedures, such as circumcision, until after you learn whether your child has hemophilia. […] Some families with a history of hemophilia may want to request prenatal testing, or testing before birth. This testing can be done early in pregnancy, allowing your family to make informed decisions and preparations. UCSF has genetic counselors who are available to help you with prenatal testing, if desired. […] If you are pregnant and think you could be a carrier, or if you have a child diagnosed with hemophilia and are expecting another child, it is important to tell your obstetrician. […] There are three ways to determine if you are a carrier: […] A DNA test can look for the mutation that caused hemophilia in your son or another relative, and compare it to your DNA.

• #57 Hemophilia – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/hemophilia/symptoms-causes/syc-20373327

  Hemophilia is a rare disorder in which the blood doesn’t clot in the typical way because it doesn’t have enough blood-clotting proteins (clotting factors). […] Treatment includes regular replacement of the specific clotting factor that is reduced. Newer therapies that don’t contain clotting factors also are being used. […] Signs and symptoms of hemophilia vary, depending on your level of clotting factors. […] Hemophilia occurs when a clotting factor is missing or levels of the clotting factor are low. […] Congenital hemophilia is classified by the type of clotting factor that’s low. […] Acquired hemophilia is a variety of the condition that occurs when a person’s immune system attacks clotting factor 8 or 9 in the blood. […] In the most common types of hemophilia, the faulty gene is located on the X chromosome.

• #58 Hemophilia A (Factor VIII Deficiency): Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/779322-overview

  Approximately 30% of patients with severe hemophilia A develop alloantibody inhibitors that can bind FVIII. These inhibitors are typically immunoglobulin G (IgG), predominantly of the IgG4 subclass, that neutralizes the coagulant effects of replacement therapy. […] In the United States, levels of FVIII inhibitors are most often measured by the Bethesda method. In this method, 1 Bethesda unit (BU) equals the amount of antibody that destroys one half of the FVIII in an equal mixture of normal plasma and patient plasma in 2 hours at 37C. […] Acquired hemophilia is the development of FVIII inhibitors (autoantibodies) in persons without a history of FVIII deficiency. This condition can be idiopathic (occurring usually in people 50 y). It can be associated with underlying collagen vascular disease or the peripartum period, or it may represent a drug reaction (eg, to penicillin). High titers of FVIII autoantibodies may be associated with malignancies, particularly lymphoproliferative malignancies.

• #59

  https://haematologica.org/article/view/9931

  Acquired hemophilia A (AHA), a rare bleeding disorder caused by neutralizing autoantibodies against coagulation factor VIII (FVIII), occurs in both men and women without a previous history of bleeding. Patients typically present with an isolated prolonged activated partial thromboplastin time due to FVIII deficiency. Neutralizing antibodies (inhibitors) are detected using the Nijmegen-modified Bethesda assay. […] AHA is rare, usually occurring unexpectedly, with physicians of different specialties potentially seeing patients initially. Therefore, a simplified diagnostic algorithm to assist physicians who may not have direct experience of AHA is required. […] Typically, patients with AHA present with acute or recent bleeding symptoms, without a previous history of bleeding, with laboratory investigations showing an isolated prolonged activated partial thromboplastin time (APTT), reduced FVIII activity (FVIII:C) (1% in 50% of cases; 5% in 75% of cases; 40% in 100% of cases), and the presence of autoantibodies, detected by the Bethesda assay or by enzyme-linked immunosorbent assay (ELISA).

• #60

  https://haematologica.org/article/view/9931

  Acquired hemophilia A (AHA), a rare bleeding disorder caused by neutralizing autoantibodies against coagulation factor VIII (FVIII), occurs in both men and women without a previous history of bleeding. Patients typically present with an isolated prolonged activated partial thromboplastin time due to FVIII deficiency. Neutralizing antibodies (inhibitors) are detected using the Nijmegen-modified Bethesda assay. […] AHA is rare, usually occurring unexpectedly, with physicians of different specialties potentially seeing patients initially. Therefore, a simplified diagnostic algorithm to assist physicians who may not have direct experience of AHA is required. […] Typically, patients with AHA present with acute or recent bleeding symptoms, without a previous history of bleeding, with laboratory investigations showing an isolated prolonged activated partial thromboplastin time (APTT), reduced FVIII activity (FVIII:C) (1% in 50% of cases; 5% in 75% of cases; 40% in 100% of cases), and the presence of autoantibodies, detected by the Bethesda assay or by enzyme-linked immunosorbent assay (ELISA).

• #61

  https://haematologica.org/article/view/9931

  We recommend that the diagnosis of AHA should be considered whenever an acute or recent onset of bleeding is accompanied by an unexplained prolonged APTT (GRADE 1B). […] We recommend that unexplained APTT prolongation prior to surgery should be investigated and not ignored (GRADE 1C). […] We recommend confirming a diagnosis of AHA by testing FVIII activity and inhibitor concentration using the Bethesda assay and/or an anti-FVIII ELISA (GRADE 1B). […] We recommend testing for anti-porcine inhibitors using a modified Bethesda assay, if treatment with rpFVIII is an option (GRADE 1B).

• #62

  https://www.novomedlink.com/rare-bleeding-disorders/hcp-education/clinical/acquired-hemophilia/diagnosing.html

  When unexplained bleeding with no previous history occurs, urgent laboratory testing to aid in diagnosis is recommended. Approximately 70% of acquired hemophilia (AH) patients experience severe, unexplained bleeding at diagnosis, with widely varying bleeding patterns. […] Patients frequently experience delays in diagnosis for acquired hemophilia. Prompt diagnosis is vital to minimize a patients risk of bleeding complications and avoid non-essential invasive procedures. […] Consult a hematologist immediately if lab results show an unexplained, isolated, prolonged aPTT. […] Confirm an acquired hemophilia diagnosis through lab testing.

• #63

  https://haematologica.org/article/view/9931

  Acquired hemophilia A (AHA), a rare bleeding disorder caused by neutralizing autoantibodies against coagulation factor VIII (FVIII), occurs in both men and women without a previous history of bleeding. Patients typically present with an isolated prolonged activated partial thromboplastin time due to FVIII deficiency. Neutralizing antibodies (inhibitors) are detected using the Nijmegen-modified Bethesda assay. […] AHA is rare, usually occurring unexpectedly, with physicians of different specialties potentially seeing patients initially. Therefore, a simplified diagnostic algorithm to assist physicians who may not have direct experience of AHA is required. […] Typically, patients with AHA present with acute or recent bleeding symptoms, without a previous history of bleeding, with laboratory investigations showing an isolated prolonged activated partial thromboplastin time (APTT), reduced FVIII activity (FVIII:C) (1% in 50% of cases; 5% in 75% of cases; 40% in 100% of cases), and the presence of autoantibodies, detected by the Bethesda assay or by enzyme-linked immunosorbent assay (ELISA).

• #64 Hemophilia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK551607/

  Prophylactic treatment has several advantages. It can reduce hemarthroses episodes and thereby reduce hemophilic arthropathy and the need for corrective joint surgeries. […] Prophylactic treatment can also reduce the frequency of cerebral and muscle bleeds and reduce the need for hospitalizations. It helps improve the quality of life for patients by allowing them to take less time off work and less frequent monitoring. […] The major complication of therapy in patients with hemophilia is the development of inhibitors. Inhibitors are alloantibodies (IgG) directed against factors VIII and IX that neutralize their action. […] The presence of inhibitors should be suspected if bleeding fails to stop after infusion of clotting factors in a patient who was responsive in the past. Inhibitors make the half-life of infused factor concentrate even shorter and thereby decrease their efficiency.

• #65 Hemophilia A (Factor VIII Deficiency): Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/779322-overview

  Approximately 30% of patients with severe hemophilia A develop alloantibody inhibitors that can bind FVIII. These inhibitors are typically immunoglobulin G (IgG), predominantly of the IgG4 subclass, that neutralizes the coagulant effects of replacement therapy. […] In the United States, levels of FVIII inhibitors are most often measured by the Bethesda method. In this method, 1 Bethesda unit (BU) equals the amount of antibody that destroys one half of the FVIII in an equal mixture of normal plasma and patient plasma in 2 hours at 37C. […] Acquired hemophilia is the development of FVIII inhibitors (autoantibodies) in persons without a history of FVIII deficiency. This condition can be idiopathic (occurring usually in people 50 y). It can be associated with underlying collagen vascular disease or the peripartum period, or it may represent a drug reaction (eg, to penicillin). High titers of FVIII autoantibodies may be associated with malignancies, particularly lymphoproliferative malignancies.

• #66 Hemophilia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK551607/

  Prophylactic treatment has several advantages. It can reduce hemarthroses episodes and thereby reduce hemophilic arthropathy and the need for corrective joint surgeries. […] Prophylactic treatment can also reduce the frequency of cerebral and muscle bleeds and reduce the need for hospitalizations. It helps improve the quality of life for patients by allowing them to take less time off work and less frequent monitoring. […] The major complication of therapy in patients with hemophilia is the development of inhibitors. Inhibitors are alloantibodies (IgG) directed against factors VIII and IX that neutralize their action. […] The presence of inhibitors should be suspected if bleeding fails to stop after infusion of clotting factors in a patient who was responsive in the past. Inhibitors make the half-life of infused factor concentrate even shorter and thereby decrease their efficiency.

• #67 Hemophilia A (Factor VIII Deficiency): Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/779322-overview

  Approximately 30% of patients with severe hemophilia A develop alloantibody inhibitors that can bind FVIII. These inhibitors are typically immunoglobulin G (IgG), predominantly of the IgG4 subclass, that neutralizes the coagulant effects of replacement therapy. […] In the United States, levels of FVIII inhibitors are most often measured by the Bethesda method. In this method, 1 Bethesda unit (BU) equals the amount of antibody that destroys one half of the FVIII in an equal mixture of normal plasma and patient plasma in 2 hours at 37C. […] Acquired hemophilia is the development of FVIII inhibitors (autoantibodies) in persons without a history of FVIII deficiency. This condition can be idiopathic (occurring usually in people 50 y). It can be associated with underlying collagen vascular disease or the peripartum period, or it may represent a drug reaction (eg, to penicillin). High titers of FVIII autoantibodies may be associated with malignancies, particularly lymphoproliferative malignancies.

• #68 Hemophilia A – Hemophilia Federation of America

  https://www.hemophiliafed.org/disease_type/hemophilia-a/

  Anyone with hemophilia A should be tested for inhibitors at least once per year. Testing is a simple blood draw that determines if an inhibitor is present. The inhibitor level is called an inhibitor titer, and that indicates the severity of the inhibitor. The two tests used are called the Nijmegen-Bethesda Assay (NBA) and the Bethesda assay (BA).

• #69 Hemophilia B – Hemophilia Federation of America

  https://www.hemophiliafed.org/disease_type/hemophilia-b/

  A mother who has a son with hemophilia B and who has no family history of the condition may or may not be a carrier of hemophilia, depending on where the genetic mutation occurred. A mother who has a son with hemophilia B should consider having her DNA tested for her son’s genetic mutation to see if she is a carrier of hemophilia. […] Anyone with hemophilia B should be tested for inhibitors regularly, at least once per year. Testing is a simple blood draw that determines if an inhibitor is present. The inhibitor level is called an inhibitor titer, and that indicates the severity of the inhibitor. The two tests used are called the Nijmegen-Bethesda Assay (NBA) and the Bethesda assay (BA).

• #70 Hemophilia A (Factor VIII Deficiency) Workup: Approach Considerations, Testing for Inhibitors, Carrier Testing and Fetal Testing

  https://emedicine.medscape.com/article/779322-workup

  In patients with an established diagnosis of hemophilia, periodic laboratory evaluations include screening for the presence of FVIII inhibitor and screening for transfusion-related or transmissible diseases such as hepatitis and HIV infection. […] Laboratory confirmation of an FVIII inhibitor is clinically important when a bleeding episode is not controlled despite infusion of adequate amounts of factor concentrate. […] By convention, 0.6 Bethesda units (BU) or greater is considered a positive result for an inhibitor. Less than 5 BU is considered a low titer of inhibitor, and more than that is a high titer. […] Screening for carrier status can be performed by measuring the ratio of FVIII coagulant activity to the concentration of vWF antigen. A ratio that is less than 0.7 suggests carrier status.

• #71 Haemophilia: diagnosis, management and nursing care of patients | Nursing Times

  https://www.nursingtimes.net/haematology/haemophilia-diagnosis-management-and-nursing-care-of-patients-13-09-2021/

  Haemophilia should be suspected in people presenting with a history of: Easy bruising in early childhood; Spontaneous bleeding for no apparent or known reason, particularly into the joints, muscles and soft tissues; Excessive bleeding after trauma or surgery. […] Most cases of severe haemophilia are diagnosed in the first year of life, but mild or even moderate cases may not be diagnosed for years, possibly into adulthood, usually following prolonged bleeding after injury or as a complication of surgery or dental treatment. […] Periodic screening for inhibitors should be part of haemophilia care; patients also need screening before any surgical procedure, including dental work. […] The development of antibodies (inhibitors) to clotting factor replacement therapies is the main complication of contemporary care; it occurs in around 14% of people with haemophilia A and 2% of those with haemophilia B.

• #72 Hemophilia A – Hemophilia Federation of America

  https://www.hemophiliafed.org/disease_type/hemophilia-a/

  Anyone with hemophilia A should be tested for inhibitors at least once per year. Testing is a simple blood draw that determines if an inhibitor is present. The inhibitor level is called an inhibitor titer, and that indicates the severity of the inhibitor. The two tests used are called the Nijmegen-Bethesda Assay (NBA) and the Bethesda assay (BA).

• #73 Understanding Hemophilia in Women

  https://www.altuviiio.com/about-hemophilia-a/about-hemophilia-a-in-women

  Hemophilia diagnosis is often missed in women, or women are misdiagnosed because of the common belief that women can only be carriers. The path to diagnosis for women is, therefore, very different from the diagnosis pathway of men. […] Studies suggest that males are diagnosed with hemophilia much earlier in life than females. For example, one study found that, on average, males were diagnosed with hemophilia at 2 days old. Whereas another study found that, on average, females were diagnosed with hemophilia at 22.6 years old. […] Testing for Factor VIII activity levels helps in the diagnosis of hemophilia, as well as establishing the severity of hemophilia. As approximately one-third of females with an affected hemophilia gene have clotting factor levels of less than 60% of normal, it is important for them to know their factor activity levels to help women and girls understand how it may impact their daily life. […] More needs to be done in the healthcare community to help test for and diagnose hemophilia in women to make sure women receive the best care and support they need in order to live healthy lives.

• #74 Understanding Hemophilia in Women

  https://www.altuviiio.com/about-hemophilia-a/about-hemophilia-a-in-women

  Hemophilia diagnosis is often missed in women, or women are misdiagnosed because of the common belief that women can only be carriers. The path to diagnosis for women is, therefore, very different from the diagnosis pathway of men. […] Studies suggest that males are diagnosed with hemophilia much earlier in life than females. For example, one study found that, on average, males were diagnosed with hemophilia at 2 days old. Whereas another study found that, on average, females were diagnosed with hemophilia at 22.6 years old. […] Testing for Factor VIII activity levels helps in the diagnosis of hemophilia, as well as establishing the severity of hemophilia. As approximately one-third of females with an affected hemophilia gene have clotting factor levels of less than 60% of normal, it is important for them to know their factor activity levels to help women and girls understand how it may impact their daily life. […] More needs to be done in the healthcare community to help test for and diagnose hemophilia in women to make sure women receive the best care and support they need in order to live healthy lives.

• #75 Understanding Hemophilia in Women

  https://www.altuviiio.com/about-hemophilia-a/about-hemophilia-a-in-women

  Hemophilia diagnosis is often missed in women, or women are misdiagnosed because of the common belief that women can only be carriers. The path to diagnosis for women is, therefore, very different from the diagnosis pathway of men. […] Studies suggest that males are diagnosed with hemophilia much earlier in life than females. For example, one study found that, on average, males were diagnosed with hemophilia at 2 days old. Whereas another study found that, on average, females were diagnosed with hemophilia at 22.6 years old. […] Testing for Factor VIII activity levels helps in the diagnosis of hemophilia, as well as establishing the severity of hemophilia. As approximately one-third of females with an affected hemophilia gene have clotting factor levels of less than 60% of normal, it is important for them to know their factor activity levels to help women and girls understand how it may impact their daily life. […] More needs to be done in the healthcare community to help test for and diagnose hemophilia in women to make sure women receive the best care and support they need in order to live healthy lives.

• #76 Clinical manifestations and diagnosis of hemophilia A and B – UpToDate

  https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-hemophilia-a-and-b

  Clinical manifestations and diagnosis of hemophilia A and B […] Differentiation between hemophilia and other conditions such as some types of von Willebrand disease, other rare coagulation factor deficiencies, or acquired factor inhibitors, and distinction between hemophilia A and B are crucial for appropriate management. […] The clinical manifestations and diagnosis of hemophilia A and B are reviewed here, including obstetric considerations. […] Diagnosis. […] Laboratory testing […] Screening tests […] Factor activity levels […] Genetic testing.

• #77 Hemophilia – The Path to Diagnosis | MyHemophiliaTeam

  https://www.myhemophiliateam.com/resources/hemophilia-the-path-to-diagnosis

  People with a family history of hemophilia may choose to be tested to find out if they are carriers of the gene before becoming pregnant. Knowing the odds helps some families feel better prepared. […] Several other conditions can produce bleeding and bruising symptoms like those seen in bleeding disorders. Conditions that may resemble hemophilia or another bleeding disorder include vitamin K deficiency, a platelet disorder such as idiopathic thrombocytopenia purpura, and cancers such as leukemia or lymphoma. […] Due to the way hemophilia is inherited, doctors believed for many years that only people assigned male at birth had bleeding disorders, while people assigned female at birth were always asymptomatic carriers. In recent years, doctors have recognized that symptoms of bleeding disorders tend to be overlooked in some carriers. […] Although von Willebrand disease affects all genders equally, people are more likely to be diagnosed if they have heavier-than-normal bleeding with menstruation, pregnancy, and childbirth.

• #78 Hemophilia – The Path to Diagnosis | MyHemophiliaTeam

  https://www.myhemophiliateam.com/resources/hemophilia-the-path-to-diagnosis

  People with a family history of hemophilia may choose to be tested to find out if they are carriers of the gene before becoming pregnant. Knowing the odds helps some families feel better prepared. […] Several other conditions can produce bleeding and bruising symptoms like those seen in bleeding disorders. Conditions that may resemble hemophilia or another bleeding disorder include vitamin K deficiency, a platelet disorder such as idiopathic thrombocytopenia purpura, and cancers such as leukemia or lymphoma. […] Due to the way hemophilia is inherited, doctors believed for many years that only people assigned male at birth had bleeding disorders, while people assigned female at birth were always asymptomatic carriers. In recent years, doctors have recognized that symptoms of bleeding disorders tend to be overlooked in some carriers. […] Although von Willebrand disease affects all genders equally, people are more likely to be diagnosed if they have heavier-than-normal bleeding with menstruation, pregnancy, and childbirth.

• #79 Wisconsin Society of Pathologists – Hemophilia diagnosis: how to test, what to know (CAP TODAY)

  https://wispath.com/Latest-News/4696028

  Hemophilia diagnosis: how to test, what to know (CAP TODAY) […] In the evaluation of non-severe hemophilia A, its important to evaluate both the one-stage clot-based factor activity and the chromogenic [assays], said Dr. Adcock, who is medical director of Colorado Coagulation, of Englewood, Colo., a member of the LabCorp Specialty Testing Group. Results should always be confirmed on a new plasma sample, and then if present, you should consider molecular testing to identify the underlying mutation. […] As Dr. Adcock reminded the audience, there are three methods for measuring the factor deficiencies that define hemophilia A (factor VIII) and B (factor IX): the one-stage clot assay, which is based on activated partial thromboplastin time; the two-stage clot assay, which is rarely performed since it is complex, cannot be automated, and no kit for it is available; and the chromogenic substrate assay, which has limited availability and is often performed as a batched analysis.

• #80 Wisconsin Society of Pathologists – Hemophilia diagnosis: how to test, what to know (CAP TODAY)

  https://wispath.com/Latest-News/4696028

  Discrepant hemophilia has been reported to occur in up to 30 percent of mild or moderate hemophilia A, but has only recently been described in abstract form in a very small cohort of hemophilia B patients. […] For non-severe hemophilia A, at least, the one-stage and chromogenic discrepancy has been reported to be consistent between family members and consistent in all individuals bearing the same mutation. […] Most cases of discrepant non-severe hemophilia A have high, often normal, factor VIII antigen levels, and these therefore represent dysfunctional proteins. […] Again, this discrepancy in results between methods may lead to missed diagnosis or misclassification. […] As she emphasized to the audience, its important not to rely on a normal or an abnormal aPTT to screen for hemophilia: Depending on the aPTT reagent, the one-stage factor VIII activity may have to fall below 25 percent, for example, and the IX below 15 percent before the PTT prolongs, and this is referred to as reagent responsiveness.

• #81 Wisconsin Society of Pathologists – Hemophilia diagnosis: how to test, what to know (CAP TODAY)

  https://wispath.com/Latest-News/4696028

  Discrepant hemophilia has been reported to occur in up to 30 percent of mild or moderate hemophilia A, but has only recently been described in abstract form in a very small cohort of hemophilia B patients. […] For non-severe hemophilia A, at least, the one-stage and chromogenic discrepancy has been reported to be consistent between family members and consistent in all individuals bearing the same mutation. […] Most cases of discrepant non-severe hemophilia A have high, often normal, factor VIII antigen levels, and these therefore represent dysfunctional proteins. […] Again, this discrepancy in results between methods may lead to missed diagnosis or misclassification. […] As she emphasized to the audience, its important not to rely on a normal or an abnormal aPTT to screen for hemophilia: Depending on the aPTT reagent, the one-stage factor VIII activity may have to fall below 25 percent, for example, and the IX below 15 percent before the PTT prolongs, and this is referred to as reagent responsiveness.

• #82 Hemophilia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK551607/

  Hemophilia A and B are the most common severe hereditary hemorrhagic disorders. Hemophilia A and B result from factor VIII and factor IX protein deficiency. Patients present with prolonged bleeding with or without trauma, depending on the factor activity. […] The principal aim of care should be to avoid and treat bleeding. The patient should receive treatment in a comprehensive treatment center where interprofessional services are offered at all times to the patients and their families. […] This activity reviews the epidemiology, natural history, evaluation, and management of hemophilia and also highlights the role of the interprofessional team in evaluating, managing, and improving care for patients with this condition. […] The diagnosis of hemophilia combines an index of suspicion due to familial history and clinical manifestation, as well as laboratory testing. Screening tests are necessary for families with an active carrier status or for those who have a family history of excessive bleeding after trauma or after surgery or known bleeding disorders in the family. […] Genetic testing by chorionic villous sampling or amniocentesis is available during pregnancy and is usually reserved for families with a history of hemophilia. Genetic counseling is also an option for those families who want prenatal testing for hemophilia. […] Testing for hemophilia is sometimes by obtaining a blood sample from the umbilical cord or a vein of a newborn immediately after birth, and levels of clotting factors can be checked for patients with high suspicion for hemophilia or in those patients who have a significant family history of bleeding disorders.

• #83 Hemophilia A Overview: Symptoms, Genetics, Treatments | NBDF

  https://www.bleeding.org/bleeding-disorders-a-z/types/hemophilia-a

  Hemophilia A, also called factor VIII (8) deficiency or classic hemophilia, is a genetic disorder caused by missing or defective factor VIII (FVIII), a clotting protein. […] Doctors will perform tests that evaluate how long it takes for the blood to clot to determine if someone has hemophilia. A clotting factor test, called an assay, will show the type of hemophilia and the severity, or how much clotting factor the person produces on their own. […] Because of our understanding of hemophilia genetics, most people who have a family history of hemophilia will ask that their baby boys be tested soon after birth to see if they have hemophilia. […] The best place for patients with hemophilia to be diagnosed and treated is at one of the federally funded hemophilia treatment centers (HTCs) that are spread throughout the country. HTCs provide comprehensive care from skilled hematologists and other professional staff, including nurses, physical therapists, social workers and sometimes dentists, dieticians and other healthcare providers, including specialized labs for more accurate lab testing.

• #84 Hemophilia A (Factor VIII Deficiency): Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/779322-overview

  Hemophilia A is an X-linked, recessive disorder caused by deficiency of functional plasma clotting factor VIII (FVIII), which may be inherited or arise from spontaneous mutation. […] Laboratory studies for suspected hemophilia include a complete blood cell count, coagulation studies, and an FVIII assay. In patients with an established diagnosis of hemophilia, periodic laboratory evaluations include screening for the presence of FVIII inhibitor and screening for transfusion-related or transmissible diseases such as hepatitis and HIV infection. Measurement of FVIII levels is important for monitoring FVIII replacement therapy. […] The treatment of hemophilia may involve prophylaxis, management of bleeding episodes, immune tolerance induction for patients with factor inhibitors, and treatment and rehabilitation of patients with hemophilia synovitis. Treatment of patients with hemophilia ideally should be provided through a comprehensive hemophilia care center.

• #85 Hemophilia A (Factor VIII Deficiency): Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/779322-overview

  Approximately 30% of patients with severe hemophilia A develop alloantibody inhibitors that can bind FVIII. These inhibitors are typically immunoglobulin G (IgG), predominantly of the IgG4 subclass, that neutralizes the coagulant effects of replacement therapy. […] In the United States, levels of FVIII inhibitors are most often measured by the Bethesda method. In this method, 1 Bethesda unit (BU) equals the amount of antibody that destroys one half of the FVIII in an equal mixture of normal plasma and patient plasma in 2 hours at 37C. […] Acquired hemophilia is the development of FVIII inhibitors (autoantibodies) in persons without a history of FVIII deficiency. This condition can be idiopathic (occurring usually in people 50 y). It can be associated with underlying collagen vascular disease or the peripartum period, or it may represent a drug reaction (eg, to penicillin). High titers of FVIII autoantibodies may be associated with malignancies, particularly lymphoproliferative malignancies.

• #86 Hemophilia A (Factor VIII Deficiency) Workup: Approach Considerations, Testing for Inhibitors, Carrier Testing and Fetal Testing

  https://emedicine.medscape.com/article/779322-workup

  In patients with an established diagnosis of hemophilia, periodic laboratory evaluations include screening for the presence of FVIII inhibitor and screening for transfusion-related or transmissible diseases such as hepatitis and HIV infection. […] Laboratory confirmation of an FVIII inhibitor is clinically important when a bleeding episode is not controlled despite infusion of adequate amounts of factor concentrate. […] By convention, 0.6 Bethesda units (BU) or greater is considered a positive result for an inhibitor. Less than 5 BU is considered a low titer of inhibitor, and more than that is a high titer. […] Screening for carrier status can be performed by measuring the ratio of FVIII coagulant activity to the concentration of vWF antigen. A ratio that is less than 0.7 suggests carrier status.

• #87 Hemophilia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK551607/

  The initial laboratory work includes but is not limited to complete blood count, prothrombin time (PT), partial thromboplastin time (PTT), and bleeding time (BT). […] In both hemophilia A and B, PTT will be prolonged (intrinsic pathway disruption), whereas PT and BT will be normal. The PTT could be as prolonged as 2 to 3 times the high normal range. […] Once PTT is found to be prolonged, it should be followed by a mixing study. In a mixing study, the PTT should normalize if factor deficiency is suspected. After the mixing study, the next step should be factor VIII and IX assay. Hemophilia is usually diagnosed if the factor activity is less than 40% of normal factor activity. […] The hemophilia treatment strategy is primarily divided into two categories – management of acute bleeding and prophylaxis. […] The fundamental concept of management of a diagnosed or confirmed acute bleeding in hemophilia is to achieve quick and aggressive hemostasis, preferably within two hours of the onset of symptoms and correction of coagulopathy, but these measures should not be delayed even if diagnostic tests are pending or if physical symptoms are not present. […] Patients require hospitalization, and guidelines from the World Federation of Hemophilia should be followed for the management of acute bleeding.

• #88 What Is Hemophilia?

  https://my.clevelandclinic.org/health/diseases/14083-hemophilia

  Hemophilia is a rare, inherited blood disorder that causes your blood to clot less, which results in an increased risk of bleeding and bruising. […] Healthcare providers treat this condition by replacing the missing clotting factors. […] A healthcare provider will start by doing a complete history and physical examination. If you have hemophilia symptoms, your provider will ask about your family’s medical history. They may do the following tests: […] Healthcare providers treat hemophilia by boosting clotting factor levels or replacing missing clotting factors (replacement therapy). […] In replacement therapy, you receive human plasma concentrates or lab-made (recombinant) clotting factors. […] Healthcare providers categorize hemophilia as being mild, moderate or severe based on the levels or amount of clotting factors in your blood.

• #89 Hemophilia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK551607/

  Prophylactic treatment has several advantages. It can reduce hemarthroses episodes and thereby reduce hemophilic arthropathy and the need for corrective joint surgeries. […] Prophylactic treatment can also reduce the frequency of cerebral and muscle bleeds and reduce the need for hospitalizations. It helps improve the quality of life for patients by allowing them to take less time off work and less frequent monitoring. […] The major complication of therapy in patients with hemophilia is the development of inhibitors. Inhibitors are alloantibodies (IgG) directed against factors VIII and IX that neutralize their action. […] The presence of inhibitors should be suspected if bleeding fails to stop after infusion of clotting factors in a patient who was responsive in the past. Inhibitors make the half-life of infused factor concentrate even shorter and thereby decrease their efficiency.

• #90 Hemophilia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK551607/

  Prophylactic treatment has several advantages. It can reduce hemarthroses episodes and thereby reduce hemophilic arthropathy and the need for corrective joint surgeries. […] Prophylactic treatment can also reduce the frequency of cerebral and muscle bleeds and reduce the need for hospitalizations. It helps improve the quality of life for patients by allowing them to take less time off work and less frequent monitoring. […] The major complication of therapy in patients with hemophilia is the development of inhibitors. Inhibitors are alloantibodies (IgG) directed against factors VIII and IX that neutralize their action. […] The presence of inhibitors should be suspected if bleeding fails to stop after infusion of clotting factors in a patient who was responsive in the past. Inhibitors make the half-life of infused factor concentrate even shorter and thereby decrease their efficiency.

• #91 Diagnosis and Treatment of Hemophilia – Hematology & Oncology

  https://www.hematologyandoncology.net/archives/june-2019/diagnosis-and-treatment-of-hemophilia/

  Abstract: Hemophilia A and B are inherited bleeding disorders characterized by deficiency or dysfunction of coagulation protein factors VIII and IX, respectively. […] The diagnosis of hemophilia is relatively straightforward and when it is suspected, measurement of FVIII or FIX clotting activity will nearly always reveal the diagnosis. […] Hemophilia is classified into 3 main forms: severe, moderate, and mild, depending on the residual coagulant activity in blood (FVIII:C/FIX:C; Table 1). […] Identification of the gene mutation is also important because it may help prognosticate the risk of inhibitor formation, and can also identify female relatives who might be carriers. […] The development of alloantibodies neutralizing factor VIII/IX coagulant activity (inhibitors) represents the main complication of factor treatment of hemophilia, occurring in approximately one-third of previously untreated patients with hemophilia A and in approximately 1% to 5% of those with hemophilia B. […] The goal of gene therapy is to cure hemophilia such that patients no longer need to be concerned about bleeding, and do not need any factor replacement therapy. […] Over the past 50 years, the diagnosis and treatment of hemophilia have improved considerably.

• #92 Causes and Symptoms of Hemophilia Explained

  https://lupindiagnostics.com/blog/lifestyle/hemophilia-diagnosis-identifying-causes-and-symptoms

  The combination of these tests provides a comprehensive overview of the patient’s condition, allowing physicians to tailor treatment strategies effectively. […] Early and accurate diagnosis of haemophilia is crucial for preventing the severe complications associated with untreated or mismanaged hemophilia. […] The haemophilia lab diagnosis process is essential for identifying the severity of the disorder and allowing physicians to implement preventative strategies that reduce the risk of these complications. […] The role of diagnostic laboratories in hemophilia diagnosis is indispensable. By offering a variety of specialized tests, from screening assays to advanced genetic diagnostics, labs ensure patients receive precise and accurate diagnoses.

• #93 About Hemophilia | Hemophilia | CDC

  https://www.cdc.gov/hemophilia/about/index.html

  Clotting factor tests are used to help diagnose hemophilia. […] To diagnose hemophilia, doctors perform blood tests to show if the blood is clotting properly. If it does not clot properly, then they perform clotting factor tests, also called factor assays, to diagnose the cause of the bleeding disorder. These blood tests show the type of hemophilia and the severity.

• #94 Hemophilia – Treatment and Diagnosis | Mount Sinai – New York

  https://www.mountsinai.org/care/cancer/services/benign-hematology/hemophilia

  Hemophilia is an inherited bleeding disorder in which the blood does not clot normally. Hemophilia A, also known as classical hemophilia, is caused by having low levels of a protein called clotting factor VIII. Hemophilia B, also known as Christmas disease, is caused by having low levels of clotting factor IX. […] Hemophilia can be diagnosed by a blood test, which may be done if other family members have the condition. […] Diagnosis is determined by screening blood tests and specific clotting factor assay tests. Screening blood tests show if the blood is clotting properly and specific clotting factor tests indicate the type of hemophilia (A or B) and the severity. […] If the APTT is longer than normal, a test called an APTT Mixing Study is done. If the results of the APTT Mixing Study indicate that the level of one of the clotting factors may be low, specific testing for each clotting factor can be performed to determine the activity level. If the Factor VIII level is low, the individual may have Hemophilia A and if the Factor IX level is low, the individual may have Hemophilia B. These clotting factor tests also indicate the severity of the deficiency.

• #95 Hemophilia | Conditions | UCSF Health

  https://www.ucsfhealth.org/conditions/hemophilia

  Accurate diagnosis is essential for the optimal management of hemophilia. Testing for hemophilia should be performed at a highly experienced specialized coagulation laboratory. Laboratories that do not frequently perform these specialized tests may not be able to accurately establish a diagnosis. […] Most people with hemophilia are diagnosed at an early age. However, those with mild hemophilia may not be diagnosed until adulthood when they experience a bleeding episode due to trauma or surgery. […] Hemophilia is diagnosed with blood tests to determine if clotting factors are missing or at low levels, and which ones are causing the problem. If you have a family history of hemophilia, it is important that your doctors know the clotting factor your relatives are missing. You will probably be missing the same one.

• #96 Haemophilia diagnosis

  https://www.haemophilia.org.au/bleeding-disorders/haemophilia/haemophilia-diagnosis/

  Haemophilia may be suspected if babies: have internal bleeding or unusual swelling or bruising after delivery, continue to bleed after a heel prick or after circumcision, bruise easily, have bruising in unusual places, eg in the armpit, have excessive bruising after immunisation. […] Mild or moderate haemophilia might not be diagnosed until children are older, or sometimes until they are adults. […] The bleeding problem might not be noticed until the person has surgery, a tooth taken out, a major accident or injury or a haemorrhage after childbirth. […] With treatment and support from their Haemophilia Treatment Centre, children born with haemophilia today can live healthy lives with a normal life expectancy.

• #97 What Is Hemophilia?

  https://my.clevelandclinic.org/health/diseases/14083-hemophilia

  If you have hemophilia, you’ll need medical treatment for the rest of your life. […] According to 2012 data from the World Federation of Hemophilia, the lifespan for men with hemophilia is about 10 years fewer than for men without hemophilia. […] Hemophilia is a rare, inherited blood disorder that can seriously impact your life. People with hemophilia may need medical treatment for the rest of their lives.

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