Materiały źródłowe

• #1 Hemophilia – Symptoms and causes – Mayo Clinic

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

  Hemophilia is almost always a genetic disorder. […] Hemophilia occurs when a clotting factor is missing or levels of the clotting factor are low. […] Hemophilia is usually inherited, meaning a person is born with the disorder (congenital). […] Some people develop hemophilia with no family history of the disorder. This is called acquired hemophilia. […] 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. […] This means that hemophilia almost always occurs in boys and is passed from mother to son through one of the mother’s genes.

• #2 What Is Hemophilia?

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

  Hemophilia happens because your body doesnt make enough clotting factors, proteins that help your blood form clots. Clotting factors work with your platelets to form blood clots that control bleeding. Low clotting factor levels increase your bleeding risk. […] Certain genes create clotting factors. In inherited hemophilia, the genes carrying instructions for making normal clotting factors mutate or change. The mutated genes may give instructions that end up making abnormal clotting factors or not enough clotting factors. That said, about 20% of all hemophilia cases are spontaneous, meaning you have the disease even though theres no family history of abnormal bleeding. […] Hemophilia A and B are both sex-linked disorders that are inherited in an X-linked recessive manner. […] If a woman has an abnormal clotting factor gene on one of her X chromosomes, she may carry hemophilia but may not have symptoms.

• #3 Hemophilia: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/hemophilia/

  Hemophilia is a bleeding disorder that slows the blood clotting process. […] The major types of this condition are hemophilia A (also known as classic hemophilia or factor VIII deficiency) and hemophilia B (also known as Christmas disease or factor IX deficiency). […] Variants in the F8 gene cause hemophilia A, while variants in the F9 gene cause hemophilia B. […] Variants in the F8 or F9 gene lead to the production of an abnormal version of coagulation factor VIII or coagulation factor IX, or reduce the amount of one of these proteins. […] Another form of the disorder, known as acquired hemophilia, is not caused by inherited gene variants. […] Acquired hemophilia results when the body makes specialized proteins called autoantibodies that attack and disable coagulation factor VIII.

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

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

  Genetics play a role in all three types of hemophilia. […] Both hemophilia A and hemophilia B involve a recessive mutation on the X chromosome. […] Hemophilia C is an autosomal inherited form of the disease. It affects biological males and females equally because the genetic defect that causes this type of hemophilia isnt related to sex chromosomes.

• #4 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. […] The primary cause of hemophilia is a mutation in the genes that control and regulate the development of clotting factors. This is called congenital, which means you acquire the trait from one or both of your parents at birth. […] About two-thirds of type A and B cases of hemophilia occur in people with a family history of the condition. […] Its also possible to develop acquired hemophilia with no personal or family history of hemophilia. This is known as acquired hemophilia, which is a rare autoimmune disorder. […] In acquired hemophilia, the immune system creates antibodies that attack the clotting factors, most frequently factor 8 (acquired hemophilia A).

• #5 Haemophilia – Wikipedia

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

  In contrast, for a female to inherit the disease, she must receive two deficient X-chromosomes, one from her mother and the other from her father (who must therefore be a haemophiliac himself). […] However, it is possible for female carriers to become mild haemophiliacs due to lyonisation (inactivation) of the X-chromosomes. […] As with all genetic disorders, it is also possible for a human to acquire it spontaneously through mutation, rather than inheriting it, because of a new mutation in one of their parents’ gametes. Spontaneous mutations account for about 33% of all cases of haemophilia A.[31] […] The most common mutation that causes severe cases of haemophilia A is an inversion within intron 22 of the factor VIII gene (F8) which is located near the tip of the X chromosome, leading to an abnormal crossover during meiosis.[32] […] About 30% of cases of haemophilia B are the result of a spontaneous gene mutation.

• #6 What causes hemophilia? | Hemophilia News TodayEnvelope icon

  https://hemophilianewstoday.com/what-causes-hemophilia/

  Although most mutations that cause hemophilia are inherited from an individual’s biological parents, it’s possible for mutations to arise spontaneously, or de novo, in a child without a family history of hemophilia. These mutations account for roughly a third of the cases of hemophilia A and B. […] In very rare cases, in approximately 1.5 in a million people, a malfunction in the immune system can lead to the onset of an acquired form of hemophilia. […] In the case of acquired hemophilia, the body attacks its own clotting factors, usually factor VIII, whose deficit causes hemophilia A. This reduces the amount of clotting factor available to effectively promote blood clot formation and prevent bleeds. […] Most cases of hemophilia are caused by genetic mutations that are passed from parents on to their biological children. In these cases, the main risk factor is having a family history of the disease.

• #6 What causes hemophilia? | Hemophilia News TodayEnvelope icon

  https://hemophilianewstoday.com/what-causes-hemophilia/

  Hemophilia, a disorder characterized by excessive bleeding, is caused by the lack of activity of certain clotting factors, which are proteins that are needed to form blood clots. […] Most cases of hemophilia are the result of mutations in a gene that provides instructions for making a specific clotting factor protein. As a consequence of these mutations, people with hemophilia either produce a faulty version of the clotting factor, too little of it, or none at all. In the majority of cases, these mutations are inherited and the disease is present from birth. These forms of the disease are sometimes referred to as congenital hemophilia. […] In the majority of cases, hemophilia is caused by mutations that a person inherits from their biological parents. The specific hemophilia inheritance pattern differs depending on the disease type.

• #7 Hemophilia: Causes, types, symptoms, and treatment

  https://www.medicalnewstoday.com/articles/154880

  In some cases, a person may spontaneously develop a gene mutation that causes hemophilia. In these cases, the person does not have a family history of the condition, and the biological mother is not a carrier. […] Rarely, a person may develop acquired hemophilia. They typically have no family or personal history of hemophilia. Instead, acquired hemophilia is an autoimmune condition where the body’s immune system starts to attack the clotting factors found in the blood.

• #7 Hemophilia: Causes, types, symptoms, and treatment

  https://www.medicalnewstoday.com/articles/154880

  Hemophilia is typically an inherited disorder, which means that a person is born with the condition. The CDC states that hemophilia is a sex-linked recessive condition. […] Hemophilia tends to occur in males. The reason for this has to do with inherited genes. […] The genetic change that causes hemophilia is a recessive change in the X chromosome. Males have one copy of the genes in the X chromosome, and females have two copies. […] As a result, males have a 50% chance of developing hemophilia if their biological mother is a carrier of the gene. If they inherit the affected X chromosome, they have hemophilia. […] Females can also inherit hemophilia. However, this is rare. For females to inherit hemophilia, the affected gene is in both X chromosomes, or the affected gene is in one X chromosome, and inactive or missing in the other.

• #8 Hemophilia – StatPearls – NCBI Bookshelf

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

  Hemophilia is usually an inherited condition and is caused by the deficiency of clotting factors in the blood. It is almost always due to a defect or mutation in the gene for the clotting factor. Research has identified over 1000 mutations in the genes encoding factor VIII and IX, and around 30% are due to spontaneous mutation. The encoding genes for factors VIII and factor IX are present in the long arm of chromosome X. Both hemophilia A and B are inherited via an X-linked recessive pattern where 100% of females born from affected fathers will be carriers, and none of the males born will be affected. Female carrier mothers have a 50% chance of having affected males and a 50% chance of having carrier females. Females could also be affected if there is a complete inactivation of chromosome X through lionization, partial or complete absence of chromosome X such as in Turner syndrome or if both parents carry the abnormal gene. […] Hemophilia A and B result from factor VIII and factor IX protein deficiency.

• #9 How Hemophilia Is Inherited | Hemophilia | CDC

  https://www.cdc.gov/hemophilia/testing/how-hemophilia-is-inherited.html

  Both hemophilia A (factor VIII deficiency) and hemophilia B (factor IX deficiency) are inherited in the same way, because both the genes for factor VIII and factor IX are located on the X chromosome. […] A female can also have hemophilia if (a) she inherits hemophilia alleles from both of her parents or (b) if she inherits one hemophilia allele and her other X chromosome is missing or does not work properly. […] Because most females who inherit hemophilia are heterozygous and have no bleeding symptoms or mild bleeding symptoms, hemophilia may be hidden in a family for many generations if it passes only through females. […] A father who has hemophilia passes his only X chromosome down to all of his daughters. The daughters will always get his hemophilia allele and be heterozygous.

• #9 How Hemophilia Is Inherited | Hemophilia | CDC

  https://www.cdc.gov/hemophilia/testing/how-hemophilia-is-inherited.html

  Most cases of hemophilia are inherited (passed down) from a parent to a child. […] Hemophilia is a bleeding disorder in which blood does not clot properly. […] A person’s genes provide the instructions on how to make proteins, such as factor VIII and factor IX. In people with hemophilia, there is a mutation (difference from normal) in either the gene for the factor VIII protein or the gene for the factor IX protein. The mutation causes the body to produce too little factor VIII or IX. This change in a copy of the gene making factor VIII or factor IX is called a hemophilia allele. […] Most people who have hemophilia are born with it. It is inherited (passed down) from a parent to a child. […] Hemophilia A is caused by low amounts of clotting factor VIII (8), and hemophilia B is caused by low amounts of clotting factor IX (9).

• #10 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Haemophilia-Causes.aspx

  Hemophilia is a bleeding disorder that is inherited from one or both parents. The condition is an X-linked genetic disorder, meaning it mainly affects males rather than females. […] Hemophilia is inherited through a mutation in the X chromosome. Since males only have one X chromosome, they will develop symptoms of hemophilia if that chromosome carries the mutation. However, because the condition is recessive, the inheritance of one abnormal X chromosome does not usually cause symptoms in females because they usually also inherit another normal X chromosome. These females are then classified as carriers of the disease and can pass on the mutation to male offspring even though they do not develop symptoms themselves. Technically, a female can develop hemophilia if she is born to a female carrier and a man affected by hemophilia, but this is very rare.

• #11 Changing Haemophilia: Symptoms, types and causes

  https://www.changinghaemophilia.com/global/en/news—events/haemophilia–symptoms–types-and-causes.html

  50% of boys whose mothers are carriers develop haemophilia. […] 50% of girls whose mothers are carriers become carriers themselves and may have symptoms. […] None of the boys whose fathers have haemophilia will develop. […] All of the girls whose fathers have haemophilia become carriers, and they may also have symptoms.

• #12 What Causes Hemophilia? | Hematology-Oncology Associates of CNY

  https://www.hoacny.com/patient-resources/blood-disorders/what-hemophilia/what-causes-hemophilia

  A defect in one of the genes that determines how the body makes blood clotting factor VIII or IX causes hemophilia. […] A male who has a hemophilia gene on his X chromosome will have hemophilia. […] When a female has a hemophilia gene on only one of her X chromosomes, she is a „hemophilia carrier and can pass the gene to her children. […] Very rarely, a girl may be born with a very low clotting factor level and have a greater risk for bleeding, similar to boys who have hemophilia and very low levels of clotting factor. […] Some males who have the disorder are born to mothers who aren’t carriers. In these cases, a mutation (random change) occurs in the gene as it is passed to the child. […] Each son has a 50 percent chance of inheriting the hemophilia gene from his mother and having hemophilia. […] Each daughter will inherit the hemophilia gene from her father and be a carrier. None of the sons will inherit the hemophilia gene from their father; thus, none will have hemophilia.

• #13 About Hemophilia

  https://www.genome.gov/Genetic-Disorders/Hemophilia

  Hemophilia occurs more commonly in males than in females. […] The two types of hemophilia are caused by permanent gene changes (mutations) in different genes. Mutations in the FVIII gene cause hemophilia A. Mutations in the FIX gene cause hemophilia B. […] Hemophilia is inherited in an X-linked recessive pattern. A condition is considered X-linked when gene mutation that causes it is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is enough to cause the condition. Since females have two X chromosomes, a mutation must be present in both copies of the gene to cause the hemophilia. Males are affected by X-linked recessive disorders much more frequently than females.

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

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

  Hemophilia A is caused by an inherited or acquired genetic mutation that results in dysfunction or deficiency of factor VIII, or by an acquired inhibitor that binds factor VIII. Of genetic cases, up to approximately one third are the result of de novo mutations not present in the mother’s X chromosome. […] Inadequate factor VIII results in the insufficient generation of thrombin by the FIXa and FVIIIa complex by means of the intrinsic pathway of the coagulation cascade. This mechanism, in combination with the effect of the tissue-factor pathway inhibitor, creates an extraordinary tendency for impaired clotting in response to trauma and, especially in persons with severe hemophilia, for spontaneous bleeding. […] Hemophilia A is inherited in an X-linked recessive pattern. The gene for FVIII is located on the long arm of the X chromosome in band q28. The factor VIII gene is one of the largest genes, making up approximately 0.1% of the DNA in the X chromosome; it is 186 kilobases (kb) long and has a 9-kb coding region that contains 26 exons. The mature protein contains 2332 amino acids and has a molecular weight of 300 kd.

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

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

  Approximately 40% of cases of severe FVIII deficiency arise from a large inversion that disrupts the FVIII gene. Deletions, insertions, and point mutations account for the remaining 50-60% of the F8C defects that cause hemophilia A. […] The mutation in intron 22 occurs during spermatogenesis and is a common cause of severe factor VIII deficiency; it is present in approximately 40% of patients. It is easily detected using a Southern blot analysis of the patient’s DNA. These patients are more likely to develop an inhibitor to factor VIII. […] Several other types of mutations have been described. Point mutations can lead to mild, moderate, or severe deficiency of factor VIII, depending on the effect of that mutation on factor VIII gene function. […] Other causes of this disorder remain to be identified.

• #16 Hemophilia Symptoms, Risk Factors, Types and Treatment

  https://www.verywellhealth.com/understanding-hemophilia-401329

  Hemophilia is a rare bleeding disorder in which blood doesnt clot normally. A person with hemophilia is missing clotting factor proteins needed to clot the blood, which leads to spontaneous bleeding or bruising. The disorder is usually inherited, but it can also be acquired. […] The Hemophilia Federation of America reports a family history in 70% of hemophilia cases, with inherited genes passed from parent to child. A mother who carries the gene has a 50% chance of passing it on to a baby. If she passes the gene to a daughter, the daughter will be a carrier. If she passes the gene to a son, he will have hemophilia. Because the father passes along the Y chromosome to his children, a son cannot inherit hemophilia from his father. […] Hemophilia can be classified by the particular coagulation factor missing: Hemophilia A results from a deficiency in factor 8. Hemophilia B results from a deficiency in factor 9. Hemophilia C (also called Rosenthal syndrome) results from a deficiency in factor 11. […] Hemophilia can also be classified by the amount of coagulation factor found. The less coagulation factor you have, the more likely you are to bleed: Mild: 640% Moderate: 15% Severe: 1%.

• #17 Hemophilia: Causes, symptoms & treatment | Live Science

  https://www.livescience.com/hemophilia.html

  Hemophilia is caused by a mutation in one of the genes that make a specific clotting factor protein needed to form a blood clot. […] Hemophilia A is the most common type, and it occurs when clotting factor VIII is low or missing in the blood. The second most common type is hemophilia B, also known as Christmas disease, named for Stephen Christmas, who at 5 years old was the first patient diagnosed with the disease, according to the National Organization of Rare Disorders (NORD). Hemophilia B is caused by the absence or low levels of clotting factor IX. Hemophilia C, which is even rarer, is caused by missing clotting factor XI. […] Hemophilia is usually inherited, but in about 30% of cases, there is no family history of hemophilia. In those cases, the disorder might be caused by a new or previously unnoticed genetic mutation.

• #18 Haemophilia A and B: disease, symptoms, treatment | Sobi

  https://www.sobi.com/en/haemophilia

  Haemophilia occurs in response to an alteration, or mutation, in the gene responsible for producing clotting factor VIII or IX, resulting in the factor not being adequately produced. […] In haemophilia A, the gene responsible for producing factor VIII, known as the F8 gene, is altered. […] In haemophilia B, the gene responsible for producing factor IX, known as the F9 gene, is altered. […] Haemophilia is usually an inherited condition, passed on from parents to offspring. […] However, in about a third of cases of haemophilia A and B there is no family history of the condition. […] This is because inherited haemophilia can arise as a spontaneous germline mutation that is, when there is an alteration in DNA in offspring which is not present in the parental DNA but which can then be passed on to the next generation.

• #19 Hemophilia – Hematology and Oncology – MSD Manual Professional Edition

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

  Hemophilia is an inherited disorder that results from mutations, deletions, or inversions affecting the factor VIII or factor IX gene. Because these genes are located on the X chromosome, hemophilia affects males almost exclusively. Female children of males with hemophilia are obligate carriers, but male children are normal. Each male child of a carrier has a 50% chance of having hemophilia, and each female child has a 50% chance of being a carrier. […] Some female carriers of hemophilia A or B become symptomatic during invasive procedures or childbirth. In these instances, the unaffected or normal X chromosome (with the normal factor VIII or IX gene) is preferentially inactivated. These females typically have factor levels in the same range as males with mild hemophilia (factor VIII or IX 5% but 50%). In patients undergoing surgery, the factor VIII or IX levels can be too low for normal hemostasis. […] Sporadic cases of hemophilia A and B (where the female parent is not a carrier) are not unusual. In one study, 55% of patients with severe hemophilia A and 43% of patients with severe hemophilia B were sporadic cases. In mild and moderate hemophilia A and B, 30% of cases were sporadic.

• #20 Acquired hemophilia: Causes and vs. hereditary hemophilia

  https://www.medicalnewstoday.com/articles/acquired-hemophilia

  Acquired hemophilia refers to a condition someone develops later in life that affects their blood clotting ability. This can lead to spontaneous bleeding, particularly after an injury or during surgery. […] Acquired hemophilia is an autoimmune condition. It can develop due to the body producing antibodies that prevent the blood from clotting correctly. […] Acquired hemophilia occurs when the body produces antibodies that attack proteins, or coagulation factors, in the blood that help clots form. […] Acquired hemophilia can occur when the body produces antibodies that attack the blood-clotting proteins. Therefore, the body does not produce enough protein to form blood clots. […] Research suggests that in approximately 50% of people with acquired hemophilia, there are no identifiable causes. In the other 50%, causes and risk factors of acquired hemophilia can include: an underlying autoimmune condition such as lupus, rheumatoid arthritis, and multiple sclerosis, health conditions such as inflammatory bowel disease, diabetes, and hepatitis, contracting an infection, blood cancer or some cancerous tumors, reactions to medications such as penicillin and interferon, pregnancy or giving birth. […] Acquired hemophilia can occur when a health condition causes the body to produce certain antibodies that attack clotting factors.

• #21 Acquired Hemophilia: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/211186-overview

  Acquired hemophilia results from the development of autoantibodies (mostly of immunoglobulin G [IgG] subclasses 1 and 4) directed against clotting factors. Numerous conditions have been associated with acquired inhibitors to FVIII. Rarely, FVIII autoantibodies arise as idiosyncratic reactions to medications. However, approximately 50% of cases are idiopathic, arising in the absence of relevant concomitant diseases or medication use. […] The following conditions may be associated with acquired hemophilia A: Pregnancy, Autoimmune disorders, Inflammatory bowel disease, ulcerative colitis, Dermatologic disorders (eg, psoriasis, pemphigus), Respiratory diseases (eg, asthma, chronic obstructive pulmonary disease), Allergic drug reactions, Diabetes, Acute hepatitis B infection, Acute hepatitis C infection, Malignancies – Solid tumors (prostate, lung, colon, pancreas, stomach, bile duct, head and neck, cervix, breast, melanoma, kidney), Hematologic malignancies.

• #22 Hemophilia A: Causes, Symptoms, Risks, and More

  https://www.healthline.com/health/understanding-hemophilia-a/what-is-hemophilia-a

  Hemophilia A is most typically a genetic bleeding disorder caused by a missing or defective clotting protein called factor VIII. Its also called classical hemophilia or factor VIII deficiency. In rare cases, it isnt inherited, but instead caused by an abnormal immune reaction within your body. […] Hemophilia A is most often a genetic disorder. This means that its caused by changes (mutations) to a particular gene. When this mutation is inherited, its passed down from parents to children. […] The specific gene mutation that causes hemophilia A leads to a deficiency in a clotting factor called factor VIII. […] Less often, hemophilia A occurs randomly in a person with no prior family history of the disorder. This is known as acquired hemophilia A. Its typically caused by a persons immune system incorrectly making antibodies that attack factor VIII. […] Acquired hemophilia is more common in people between the ages of 60 and 80 years old and in pregnant women. Acquired hemophilia has been known to resolve, unlike the inherited form.

• #23 Hemophilia A

  https://www.webmd.com/children/hemophilia-a

  Hemophilia A comes from your genes. You can inherit it from your parents. Or it can happen if a certain gene changes before you’re born. This change is called a spontaneous mutation. […] The hemophilia A gene mutation happens on the X chromosome. Women get one X chromosome from their mother and one from their father. Men get an X from their mother and a Y from their father. […] Most women with the problem gene are carriers and have no symptoms, but they can pass it to their sons. Therefore the disease nearly always shows up in boys, not girls. […] A rare type of hemophilia A is acquired hemophilia. Its most common in people 60 to 80 years of age. If you have this kind, your immune system attacks healthy tissue called clotting factors in your blood. Acquired hemophilia tends to happen alongside these conditions: Pregnancy, Autoimmune conditions, Cancer, Multiple sclerosis.

• #24 Acquired Hemophilia: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/211186-overview

  Autoimmune disorders may include the following: Rheumatoid arthritis, Systemic lupus erythematosus, Multiple sclerosis, Giant cell arteritis (temporal arteritis), Sjgren syndrome, Autoimmune hemolytic anemia, Goodpasture Syndrome, Myasthenia gravis, Graves disease, Autoimmune hypothyroidism. […] Allergic drug reactions may occur from the following: Clopidogrel, Alemtuzumab, Omalizumab, Penicillin and its derivatives, Sulfamides, Phenytoin, Chloramphenicol, Methyldopa, Depot thioxanthene, Interferon alfa, Fludarabine, Bacille Calmette-Gurin (BCG) vaccination, Desvenlafaxine. […] Hematologic malignancies may include the following: Chronic lymphocytic leukemia, Non-Hodgkin lymphoma, Multiple myeloma, Waldenstrm macroglobulinemia, Myelodysplastic syndrome, Myelofibrosis, Erythroleukemia.

• #25 Hemophilia: Etiology, complications, and current options in management

  https://www.managedhealthcareexecutive.com/view/hemophilia-etiology-complications-and-current-options-management

  Hemophilia is a rare congenital bleeding disorder, resulting from a deficiency of factor VIII (hemophilia A) or factor IX (hemophilia B). Deficiency of either of these factors interrupts normal hemostasis resulting in an inability to form a stable fibrin clot to halt bleeding. […] Hemophilia A and B develop when there are deficiencies of coagulation factors VIII and IX, respectively. Since both factor VIII and IX are needed for thrombin generation and formation of a stable fibrin clot, deficiency of either results in excessive bleeding. […] Hemophilia A and B are both X-linked recessive disorders resulting from mutations on the factor VIII and factor IX genes located on the X chromosome. The difference in prevalence between hemophilia A and B is due to the difference in the size of the genes-the factor VIII gene is larger, increasing the chance of a mutation. Point mutations are the most commonly found factor VIII and IX gene mutations but other chromosomal aberrations, including deletions, insertions, and rearrangements or inversions have also been identified. […] Hemophilia is a congenital deficiency of either clotting factor VIII or IX, potentially resulting in spontaneous and life-threatening bleeding.

• #26 Hemophilia: Treatment, Preventing Bleeding and Daily Care

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

  Hemophilia (he mo FEE lee ah) is an inherited blood disorder. In hemophilia, a blood clotting factor is missing. In Hemophilia A, Factor VIII (8) is missing. In Hemophilia B, Factor IX (9) is missing. […] Hemophilia occurs mainly in males but females can carry the gene that causes it and may or may not have bleeding problems. […] Some children with hemophilia have no family history of the disorder. […] There is no cure for hemophilia at this time, but there is medicine people can take. […] A person with hemophilia has problems when a fibrin clot is needed to stop the bleeding. People with hemophilia do not have enough of either clotting factor 8 or 9. Because of this, the fibrin clot is not made or is so thin that the bleeding goes on. […] The person with hemophilia does not bleed faster than someone without hemophilia. However, the person with hemophilia will bleed longer.

• #27 Hemophilia A: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/000538.htm

  Hemophilia A is a hereditary bleeding disorder caused by a lack of blood clotting factor VIII. Without enough factor VIII, the blood cannot clot properly to control bleeding. […] Hemophilia A is caused by an inherited X-linked recessive trait, with the variant gene located on the X chromosome. […] Males have only one X chromosome. If the factor VIII gene is missing on a boy’s X chromosome, he will have hemophilia A. For this reason, most people with hemophilia A are male. […] If a woman has a variant factor VIII gene, she is considered a carrier. This means the variant gene can be passed down to her children. Boys born to such women have a 50% chance of having hemophilia A. Their daughters have a 50% chance of being a carrier. All female children of men with hemophilia carry the variant gene whereas male children do not. […] Risk factors for hemophilia A include: Family history of bleeding, Being male.

• #28 What causes hemophilia? | Hemophilia News TodayEnvelope icon

  https://hemophilianewstoday.com/what-causes-hemophilia/

  The genes that cause the most common forms of hemophilia, types A and B, are located on the sex-determining X chromosome. Consequently, these forms of hemophilia disproportionately affect boys. Thus, being male is considered a key risk factor for hemophilia. Rarer types, namely type C and acquired hemophilia, affect people of both sexes at roughly equal rates.

• #29 Hemophilia and Where To Find Help | Accessia Health

  https://accessiahealth.org/what-is-hemophilia/

  Hemophilia is an inherited bleeding disorder where the blood does not clot properly. […] Hemophilia occurs in about 1 of every 5,000 male births. Its estimated that as many as 33,000 males (from all racial and ethnic groups) are currently living with hemophilia. […] People who have hemophilia have low levels of clotting factor VIII (8) or clotting factor IX (9). Each person can have a different severity of this disease, based on the amount of factor in the blood. […] There are several different types of hemophilia too. The two most common are: Hemophilia A (Classic Hemophilia): lack or decrease of clotting factor VII and Hemophilia B (Christmas Disease): lack or decrease of clotting factor IX. […] The best treatment for Hemophilia is to replace the missing clotting factor to allow the blood to clot properly.

• #30 Haemophilia: Symptoms, Causes, and Treatment

  https://patient.info/allergies-blood-immune/haemophilia

  Haemophilia is a rare bleeding disorder caused by deficiency of clotting factors. […] The vast majority of cases are inherited, so people are usually born with the condition. […] Both haemophilias are inherited as X-linked recessive conditions. […] The abnormal gene (that is inherited in haemophilia) causes a deficiency of a clotting factor. […] Haemophilia A happens in around 1 in 4-5,000 live male births per year. Haemophilia B occurs in around 1 in 30,000 live births. […] You can, rarely, acquire haemophilia after birth. This happens largely in older patients, due to the immune system attacking clotting factors or because of blood cancers (haematological malignancies). […] Because haemophilia is inherited in an X-linked recessive pattern, male babies are usually affected. […] The haemophilia gene can be passed on from parent to child. For a woman who carries the gene, there is a 1 in 2 chance that her sons will have haemophilia, and a 1 in 2 chance that her daughters will carry the gene.

• #31 What is Hemophilia | Types and Causes | Changing Hemophilia®

  https://www.changinghemophilia.com/hemophilia-education/hemophilia-basics.html

  In people living with hemophilia, one of the clotting factors is missing or reduced, which prevents this process from working. […] Most people living with hemophilia are born with it. In the majority of these cases, it is passed to a child from the mother’s side of the family. Sometimes, a person may develop hemophilia without any family history. In fact, nearly one-third of hemophilia cases are not inherited and have no family history of the disease. […] 80% of people with hemophilia have hemophilia A. Also known as Factor VIII (8) deficiency, it is caused by a lack of the clotting factor known as Factor VIII. […] 20% of people with hemophilia have hemophilia B. Also called Factor IX (9) deficiency, it’s caused by a lack of you guessed it Factor IX.

• #32 Hemophilia Clinic: Bleeding Disorders

  https://health.ucdavis.edu/hemophilia/bleeding_disorders.html

  Classic hemophilia (Hemophilia A and B) primarily affects males and is hereditary, transmitted from one generation to another. […] The most well-known bleeding disorder is Hemophilia A, caused by a lack of the coagulation factor VIII (approximately 80 percent of hemophilia cases). Hemophilia B (also known as Christmas disease) is caused by the lack of the coagulation factor IX (20 percent of hemophilia cases). […] A defect in the function of any other clotting factors may cause bleeding, and the severity may range from mild to severe depending on the mutation or particular defect.

• #33 Hemophilia: Causes, Types, Diagnosis And Treatment

  https://www.drkarunhematology.com/blog/hemophilia-causes-types-diagnosis-and-treatment/

  Hemophilia is a condition where blood doesnt clot properly because the body doesnt make enough of certain substances needed for clotting. This happens because factors like VII, IX, and XI arent produced enough. […] X chromosome-related genes cause an inadequate generation of blood clotting proteins. Recessive inheritance of the disease occurs via the female line. Hereditary pathology only affects males. […] Its a mix of recessive and dominant genes that lead to hemophilia. […] About 0.5% of detected cases of hemophilia of various etiologies belong to other types V, VII, X, and others.

• #34 Haemophilia

  https://www.nhs.uk/conditions/haemophilia/

  Haemophilia is caused by a lack of a protein, called clotting factor, that helps blood clot. […] Most people with haemophilia are born with it. It is possible to develop haemophilia later in life (acquired haemophilia), but this is very rare. […] Haemophilia is usually caused by an altered gene being passed on to a child by their parents (inherited). […] Men with the altered gene will have symptoms of haemophilia. […] Women with the altered gene (carriers of haemophilia) can have symptoms of haemophilia, but this is less common and the symptoms are less severe than in men.

• #35 What Causes Hemophilia?

  https://www.icliniq.com/articles/blood-health/hemophilia-causes-and-risk-factors

  The exact cause of acquired hemophilia is not always clear, but it can be triggered by a variety of factors, including: Autoimmune diseases (for example, rheumatoid arthritis, lupus). […] Acquired hemophilia is more common in adults and is usually linked to other health problems. It can affect both males and females. […] Hemophilia can be inherited or developed later. It mostly affects males because it is passed through the X chromosome. It can also be caused by diseases, cancer, infections, or some medicines. Knowing the causes helps with early diagnosis and treatment.

• #36 Haemophilia | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/haemophilia

  Haemophilia is an inherited condition where the blood doesn’t clot properly. […] It is caused when blood does not have enough clotting factor. […] Haemophilia is an inherited condition and occurs in families. It is caused by a genetic variation (change) in one of two genes (the F8 and F9 genes) that make blood clotting factor. Changes in these genes can alter or reduce the blood clotting process. […] A change in the F8 gene, which makes blood clotting factor VIII (8), causes haemophilia A. A change in the F9 gene, which makes blood clotting factor IX (9), causes haemophilia B. […] These genes are located on the X chromosome, which is one of the two sex chromosomes (X and Y). Haemophilia is inherited in an X-linked recessive pattern. […] In about one third of people born with haemophilia, there is no history of the disorder in the family. This happens when a genetic change in the F8 or F9 gene occurs randomly during reproduction and is passed on at conception.

• #37 Haemophilia | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/haemophilia

  Haemophilia is usually diagnosed through blood tests for a person’s clotting factor levels and genetic testing that identifies a change in the F8 or F9 gene that causes haemophilia. […] Acquired haemophilia is another bleeding disorder. It is not inherited like the classical form of haemophilia. It is a very rare condition where a person’s immune system develops antibodies against one of their body’s own clotting factors. This results in a reduced factor level in their blood.

• #38 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. […] Although it is passed down from parents to children, about 1/3 of cases found have no previous family history. […] Hemophilia is passed down from parents to children. […] Yes, hemophilia is a sex linked disorder. The X and Y sex chromosomes help determine hemophilia inheritance patterns. The gene for hemophilia is carried on the X chromosome. […] Hemophilia is inherited in an X-linked recessive manner. […] A daughter who inherits an X chromosome that contains the gene for hemophilia is called a carrier. She can pass the gene on to her children. […] Many women who carry the hemophilia gene also have low factor expression, which can result in heavy menstrual bleeding, easy bruising, and joint bleeds. […] 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. […] If there is a known family history, it is important to monitor for symptoms.

• #39 Hemophilia: Treatment, Preventing Bleeding and Daily Care

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

  People with bleeding disorders must talk to their doctor or nurse before taking medicine that can affect their platelets. These include aspirin, ibuprofen and naproxen. Always ask your hemophilia team before giving your child a medicine. […] Remember that a person with a bleeding disorder will not bleed faster than anyone else. However, the bleeding will last longer if not treated. […] Early treatment of bleeding is especially important for people with hemophilia. They should follow these good rules for early treatment: Take factor right away if you have an injury. This is especially important if a similar injury caused a bleed in the past. […] If your child has any of these symptoms of abdominal bleeding, call the doctor: Severe abdominal (stomach) pain with no explained cause. […] If your child has any of these complaints, he may have bleeding into a joint and will need clotting factor. Call the doctor right away.

• #40 Hemophilia: Treatment, Preventing Bleeding and Daily Care

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

  If your child has bleeding from the lips, gums or tongue, apply pressure and ice packs. […] If the bleeding does not stop in 10 minutes, your child probably needs clotting factor. […] Remember: Before your child gets stitches, he MUST be treated with clotting factor. […] When your child is diagnosed with hemophilia, you will meet with the Hemophilia Team (doctor, nurse, physical therapist, psychologist, genetic counselor and social worker) to talk about your child’s care.

• #41 Understanding Haemophilia: Causes, Treatments, Recommendations – BW Healthcare World

  https://www.bwhealthcareworld.com/article/understanding-haemophilia-causes-treatments-recommendations-517635

  Haemophilia is an X-linked recessive pattern genetic disorder with females being carriers and males being affected primarily. The genetic change leads to a hampered ability of an individual to produce clotting factors. […] Haemophilia A is when there is a deficiency of clotting factor VIII, and Haemophilia B is when there is a deficiency of clotting factor IX. […] Haemophilia passes on to children. Hence genetic counselling is mandatory for such patients.

• #42 Haemophilia: Causes and advancements in treatment that you should know | Health – Hindustan Times

  https://www.hindustantimes.com/lifestyle/health/haemophilia-causes-and-advancements-in-treatment-that-you-should-know-101720863089354.html

  Haemophilia is a genetic bleeding disorder and hereditary disorder that affects the ability of the body to form blood clots because of deficiency of factor VIII or IX where it primarily affects males and is usually inherited, though spontaneous mutations can also occur. […] Haemophilia is caused by mutations in the genes responsible for producing clotting factors in our body, which are located on the X chromosome, making it an X-linked recessive disorder. […] The root cause is a mutation in the F8 or F9 gene, which can be inherited or occur spontaneously.

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