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Hemophilia: Bleeding
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Hemophilia is an inherited bleeding disorder caused by a deficiency of one of the proteins necessary for proper clotting. The type and severity of a person’s hemophilia depends on which protein is involved, and to what degree it is deficient. Persons with hemophilia do not bleed faster than others, but they do bleed longer. Hemophilia affects mostly males, and occurs in 1 in every 7,500 male births.
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Hemophilia is an uncommon bleeding disorder that affects almost exclusively men. Boys or men with this disorder may have frequent bleeding episodes starting at birth or within the first few years of life. Typical bleeding problems include oozing from circumcision, easy bruising, bleeding inside the joints, frequent and persistent nosebleeds, and prolonged oozing from cuts or abrasions. Since the mutation that causes hemophilia arises on the X-chromosome, it can be transmitted genetically by a mother who is a carrier to half her sons.
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Hemophilia A and hemophilia B are inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder 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 sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
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Hemophilia runs in families. It can occur in any ethnic group. It is passed on the X-chromosome. If a mother (XX) is a carrier, about half of her daughters will be carriers and about half of her sons will have the disease. If a father (XY) has the disease, about half of his daughters will be carriers; his sons will be unaffected. Boys without the disease cannot be carriers.
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Hemophilia A is four times as common, with an estimated incidence of 1 in 10,000 males, while hemophilia B is estimated to occur in one in 40,000 males. Approximately 1 woman in 5,000 is a carrier for hemophilia A, and 1 in 20,000 is a carrier of hemophilia B.
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Hemophilia B is caused by a defective clotting factor known as factor IX. This type of hemophilia is ... known as Christmas disease. The range of symptoms of hemophilia B is similar to that of hemophilia A.
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