hemophilia A

Hemophilia A is a hereditary bleeding disorder caused by a deficiency in factor VIII, a substance crucial for blood clotting. This deficiency leads to an increased tendency to bleed, often manifesting as large bruises from minor injuries, and can cause bleeding in the mouth, nose, and gastrointestinal tract. A common and serious complication is bleeding into the joints, particularly the knees, ankles, and elbows, which can lead to swelling and impaired function.1234

Hemophilia A is a sex-linked recessive trait, meaning it is almost exclusively expressed in males but transmitted by females. While affected males cannot pass the trait to their sons, their daughters will be carriers. Treatment involves infusions of clotting factor, which can be derived from human blood or produced through recombinant DNA technology. The drug desmopressin (DDAVP) can also be effective for milder cases.154