Hemophilia A

X-ray structure of fVIII, color-coded by region

Hemophilia A is a genetic disorder caused by mutation of the gene encoding for factor VIII, located on the X-chromosome, and resulting insufficiency of functional blood clotting factor VIII, impairing the ability to form stable blood clots. Patients with severe hemophilia A experience spontaneous bleeding episodes, bruising, gastrointestinal bleeding, bleeding into the joints (resulting in swelling and pain), and sometimes life-threatening bleeding caused by trauma to critical organs. Hemophilia is estimated to occur in approximately 1 out of every 10,000 male births and roughly one third of all cases occur without a family history of the disorder. Currently, and where available, hemophilia A is treated via life-long intravenous infusions of either human plasma-derived or recombinant factor VIII.