Hemophilia is the oldest known hereditary bleeding disorder. There are two types of hemophilia, A and B (Christmas Disease). Low levels or complete absence of a blood protein essential for clotting causes both. Patients with hemophilia A lack the blood clotting protein, factor VIII, and those with hemophilia B lack factor IX. There are about 20,000 hemophilia patients in the United States. Each year, about 400 babies are born with this disorder. Approximately 85% have hemophilia A and the remainder has hemophilia B.
The severity of hemophilia is related to the amount of the clotting factor in the blood. About 70% of hemophilia patients have less than one percent of the normal amount and, thus, have severe hemophilia. A small increase in the blood level of the clotting factor, up to five percent of normal, results in mild hemophilia with rare bleeding except after injuries or surgery. Enormous strides made in assuring the safety of the blood supply and in the genetic aspects of hemophilia research allow us now to focus on issues, which will improve the quality of life of the hemophilia patient and, ultimately, develop a cure.
The most important challenges facing the hemophilia patient, health care provider, and research community today are safety of products used for treatment, management of the disease including inhibitor formation, irreversible joint damage, and life-threatening hemorrhage, and progress toward a cure.