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 About Hemophilia | Hemophilia | CDC

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

  Hemophilia is usually an inherited bleeding disorder in which blood does not clot properly. […] Inherited hemophilia is caused by a mutation or change, in one of the genes, that provides instructions for making the clotting factors needed to form a blood clot. This change or mutation can prevent the clotting factor from working properly or to be missing altogether. […] The X chromosome contains many genes that are not present on the Y chromosome. This means that males only have one copy of most of the genes on the X chromosome, while females have two copies. Therefore, males can have hemophilia if they inherit an affected X chromosome that has a mutation in either the factor VIII or factor IX gene. […] A female with one affected X chromosome is a „carrier” of hemophilia. Sometimes a female who is a carrier can have symptoms of hemophilia. In addition, she can pass the affected X chromosome with the clotting factor gene mutation on to her children.

• #3 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.

• #4 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.

• #5 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.

• #6 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.

• #7 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.

• #8 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).

• #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.

• #10 Haemophilia – Wikipedia

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

  Causes Usually genetic. […] They are typically inherited from one’s parents through an X chromosome carrying a nonfunctional gene. […] It is possible for a new mutation to occur during early development, or haemophilia may develop later in life due to antibodies forming against a clotting factor. […] Other types include haemophilia C, which occurs due to low levels of factor XI, Von Willebrand disease, which occurs due to low levels of a substance called von Willebrand factor, and parahaemophilia, which occurs due to low levels of factor V. […] Acquired haemophilia is associated with cancers, autoimmune disorders, and pregnancy. […] Since a male receives his single X-chromosome from his mother, the son of a healthy female silently carrying the deficient gene will have a 50% chance of inheriting that gene from her and with it the disease; and if his mother is affected with haemophilia, he will have a 100% chance of being a haemophiliac.

• #11 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. […] A mother who is a carrier has a 50% chance of passing the faulty X-chromosome to her daughter, while an affected father will always pass on the affected gene to his daughters. […] 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. […] 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. […] About 30% of cases of haemophilia B are the result of a spontaneous gene mutation.

• #12 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.

• #13 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.

• #14 Hemophilia A – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK470265/

  Hemophilia encompasses a group of inherited disorders that alter blood coagulation. Classical hemophilia, also known as hemophilia A, is a hereditary hemorrhagic disorder resulting from a congenital deficit of factor VIII that manifests as protracted and excessive bleeding either spontaneously or secondary to trauma. […] An X-linked, recessive hemorrhagic trait or gene induces Hemophilia A. Hemophilia A’s X-linked trait manifests as a congenital absence or decrease in plasma clotting Factor VIII, a pro-coagulation cofactor and robust initiator of thrombin that is essential for the generation of adequate amounts of fibrin to form a platelet-fibrin plug at sites of endothelial disruption. […] Female Hemophilia A gene carriers will transmit the gene to 50% of their male offspring, who will inherit the disorder. Female hemophilia gene carriers do not manifest symptoms of Hemophilia A but may have lower than usual quantities of Factor VIII. Male Hemophilia A patients do not transmit hemophilia to male offspring, but their female offspring will carry the hemophilia gene.

• #15 Hemophilia | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/hemophilia

  Hemophilia is an inherited disorder in which one of the proteins (clotting factors) in the plasma is reduced or absent. […] Although hemophilia is genetic, about one-third of babies with hemophilia have no known family history. This could be due to a new mutation, or change, in the gene that causes hemophilia. […] The gene that causes hemophilia is carried on the X chromosome, so it is called a sex-linked disorder. […] If a female inherits the hemophilia chromosome, the normal other X chromosome usually will enable her to make normal levels of factor. […] A female who has one affected X chromosome is called a hemophilia carrier. […] With every pregnancy a female carrier has a 50 percent chance of passing on the affected hemophilia X chromosome, which results in either having a son with hemophilia or a daughter who is a carrier. […] ALL daughters of men with hemophilia will be carriers since to be a female they must inherit the affected hemophilia X chromosome from their father. […] Sons of men with hemophilia will not be impacted because they inherit the unaffected Y chromosome from their father.

• #16 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. […] 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. […] 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. There are several hereditary and genetic causes of this much rarer form of hemophilia in females.

• #17 Content – Health Encyclopedia – University of Rochester Medical Center

  https://www.urmc.rochester.edu/encyclopedia/content?contenttypeid=90&contentid=P02313

  Hemophilia types A and B are inherited, or genetic, diseases. They are passed on from parents to children through a gene on the X chromosome. Females have 2 X chromosomes, while males have 1 X and 1 Y chromosome. This means that boys are at risk for hemophilia, while girls are much more likely to be carriers of the defective gene without symptoms. […] In about 1/3 of the people with hemophilia, there is no family history of the disorder. In these cases, its believed that the disorder could be related to a new gene flaw called a mutation. […] Carriers of both of the hemophilia genes have the disease called hemophilia with more severe bleeding. They will have a severe decrease in their clotting factors.

• #18 Hemophilia Causes, Symptoms, and Prevention

  https://www.manipalhospitals.com/oldairportroad/blog/hemophilia-causes-symptoms-and-prevention/

  Hemophilia is caused by mutations, alterations in genetic material, in the genes F8 and F9 causing haemophilia A and haemophilia B respectively. The mutations in the F8 or F9 gene cause the deficiency of the clotting factors and the altered protein produced cannot participate effectively in the blood clotting process resulting in prolonged periods of bleeding. […] In nearly 30% of cases of haemophilia, there is no known family history of haemophilia and it happens due to a new mutation in the genes.

• #19 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. […] An autoimmune disorder occurs when your immune system attacks healthy cells. In acquired hemophilia, the immune system creates antibodies that attack the clotting factors, most frequently factor 8 (acquired hemophilia A).

• #20 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. […] A mother who is a carrier has a 50% chance of passing the faulty X-chromosome to her daughter, while an affected father will always pass on the affected gene to his daughters. […] 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. […] 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. […] About 30% of cases of haemophilia B are the result of a spontaneous gene mutation.

• #21 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.

• #22 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.

• #23 What Causes Hemophilia? | MyHemophiliaTeam

  https://www.myhemophiliateam.com/resources/what-causes-hemophilia

  Hemophilia is a group of bleeding disorders that are caused by a lack of blood clotting factors, the proteins and enzymes needed to make blood clot. […] Hemophilia A (or classic hemophilia) is caused by low levels of clotting factor VIII (8), and hemophilia B (or Christmas disease) is caused by low levels of factor IX (9). […] Some rare types of hemophilia are caused by a lack of other clotting factors, including factors I (1), II (2), V (5), VII (7), X (10), XI (11), XII (12), and XIII (13). […] Typically, not producing enough clotting factor or producing a faulty clotting factor (one that does not function properly) can result in a bleeding disorder. […] Most cases of hemophilia A and B are due to inherited mutations (variations) in the genes for factor VIII and factor IX. […] Hemophilia A and B follow an X-linked recessive pattern of inheritance.

• #24 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.

• #25 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. […] Many women who carry the hemophilia gene also have low factor expression, which can result in heavy menstrual bleeding, easy bruising, and joint bleeds. Some women who have the hemophilia gene have factor expression low enough to be diagnosed with hemophilia. […] 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.

• #26 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 mothers 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, its caused by a lack of you guessed it Factor IX.

• #27 Causes of Hemophilia B | Bleeding Disorders

  https://www.bleedingdisorders.com/hemophilia-b/causes

  What can lead to such a complex bleeding disorder and why is it more common among males? […] When the body cant produce enough of the protein called factor IX (factor 9), it cant control bleeding. A mutation of a gene on the X chromosome causes the factor IX deficiency known as hemophilia B. […] Hemophilia B is a sex-linked recessive genetic disorder. That means it can be passed from parents to children via a gene on the X chromosome. […] This gene provides instructions for making clotting factor IX. When there is a mutation (change) in this gene, the body does not make the clotting factor properly. […] In a boy, the presence of the affected gene results in hemophilia symptoms because there is no second X chromosome that could have a properly working gene.

• #28 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 mothers 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, its caused by a lack of you guessed it Factor IX.

• #29 Hemophilia

  https://johnshopkinshealthcare.staywellsolutionsonline.com/Library/DiseasesConditions/Adult/Hematology/90,P02313

  Hemophilia types A and B are inherited, or genetic, diseases. They are passed on from parents to children through a gene on the X chromosome. Females have 2 X chromosomes, while males have 1 X and 1 Y chromosome. This means that boys are at risk for hemophilia, while girls are much more likely to be carriers of the defective gene without symptoms. […] In about 1/3 of the people with hemophilia, there is no family history of the disorder. In these cases, its believed that the disorder could be related to a new gene flaw called a mutation. […] Hemophilia C is a problem with factor 11. It usually doesn’t cause spontaneous bleeding. But people may have increased bleeding after surgery.

• #30 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.

• #31 What Causes Hemophilia? | MyHemophiliaTeam

  https://www.myhemophiliateam.com/resources/what-causes-hemophilia

  Hemophilia is a group of bleeding disorders that are caused by a lack of blood clotting factors, the proteins and enzymes needed to make blood clot. […] Hemophilia A (or classic hemophilia) is caused by low levels of clotting factor VIII (8), and hemophilia B (or Christmas disease) is caused by low levels of factor IX (9). […] Some rare types of hemophilia are caused by a lack of other clotting factors, including factors I (1), II (2), V (5), VII (7), X (10), XI (11), XII (12), and XIII (13). […] Typically, not producing enough clotting factor or producing a faulty clotting factor (one that does not function properly) can result in a bleeding disorder. […] Most cases of hemophilia A and B are due to inherited mutations (variations) in the genes for factor VIII and factor IX. […] Hemophilia A and B follow an X-linked recessive pattern of inheritance.

• #32 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.

• #33 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.

• #34 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.

• #35 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. […] Acquired hemophilia is an autoimmune condition. It can develop due to the body producing antibodies that prevent the blood from clotting correctly. […] 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.

• #36 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.

• #37 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.

• #38 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. […] Acquired hemophilia is an autoimmune condition. It can develop due to the body producing antibodies that prevent the blood from clotting correctly. […] 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.

• #39 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.

• #40 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. […] Acquired hemophilia is an autoimmune condition. It can develop due to the body producing antibodies that prevent the blood from clotting correctly. […] 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.

• #41 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.

• #42 Hemophilia

  https://learn.genetics.utah.edu/content/genetics/hemophilia/

  Hemophilia A and B are caused by changes in two different genes. For hemophilia A, the affected gene is F8. For hemophilia B it is F9. Both genes are on the X chromosome. […] People with hemophilia have only non-working alleles of either the F8 or the F9 genes meaning they are missing either coagulation factor VIII or IX protein. […] Since the F8 and F9 genes are on the X chromosome, hemophilia is inherited differently in males and females. […] From the perspective of having the genetic disorder, hemophilia follows an X-linked recessive inheritance pattern. […] There are many alleles of F8 and F9 that cause hemophilia. Each disorder-causing allele codes for a protein that works a little differently, which is why the effects vary from person to person. […] Depending on which allele a person has, they may respond more or less well to some treatments. […] Variation in genes other than F8 and F9 change the effects of hemophilia. […] Some women show symptoms of hemophilia, even when they have just one affected allele. This can happen when they carry a severely affected allele, in which case they produce less clotting factor than usual.

• #43 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%.

• #44 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.

• #45 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%.

• #46 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.

• #47 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.

• #48 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. […] Many women who carry the hemophilia gene also have low factor expression, which can result in heavy menstrual bleeding, easy bruising, and joint bleeds. Some women who have the hemophilia gene have factor expression low enough to be diagnosed with hemophilia. […] 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.

• #49 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.

• #50 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.

• #51 Hemophilia: Causes, etiology, pathophysiology, symptoms, diagnosis, prevention, treatment, KeyPoints – SOMTECH MEDIA

  https://somtechdataapi.com/hemophilia-causes

  Hemophilia is a rare genetic bleeding disorder characterized by the inability to form blood clots properly. It is caused by a deficiency of clotting factors, which are proteins that help to form a clot to stop bleeding. […] Hemophilia is an inherited disorder, which means that it is passed down from parents to their children through their genes. The genes that cause hemophilia are located on the X chromosome. Females have two X chromosomes, while males have one X and one Y chromosome. Therefore, males are more likely to develop hemophilia because they only have one X chromosome. […] Hemophilia is caused by a deficiency of clotting factors, which are proteins that help to form a clot to stop bleeding. In hemophilia A, the deficiency is of clotting factor VIII, while in hemophilia B, the deficiency is of clotting factor IX. Without enough clotting factors, the blood cannot form a clot properly, which leads to excessive bleeding. […] Hemophilia can be classified into two main types: hemophilia A and hemophilia B.

• #52 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.

• #53 What Causes Hemophilia? – Acibadem Health Point – ACIBADEM Hospitals – Acibadem Health Group

  https://www.acibademhealthpoint.com/what-causes-hemophilia/

  Hemophilia comes from changes in the F8 or F9 genes. These genes help make clotting factors VIII and IX. They are key for blood to clot. But when these genes change, clotting doesn’t work right. […] Hemophilia passes down in families, mostly to boys. Girls can carry it without being affected. They might give it to their children. […] If anyone in a family has hemophilia, this could affect others too. This makes it critical for family members to get checked. Genetic counseling and testing are essential for those at risk. […] Changes in the F8 or F9 genes cause hemophilia. These changes stop the body from making good clotting factors, leading to blood not clotting right.

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