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Hemophilia A & B
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Hemophilia A is the most common hereditary disease with serious bleeding. It is caused by a reduction in the amount or activity of factor VIII. This protein serves as a cofactor for the activation of factor X in the coagulation cascade. Hemophilia A is inherited as an X- linked recessive trait, and thus it occurs in males and in homozygous females. However, excessive bleeding has been described in heterozygous females, presumably caused by extremely “ unfavorable lyonization” (inactivation of the normal X chromosome in most of the cells) Approximately 30% of the patients have no family history; their disease is presumably caused by new mutations.
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