National Hemophilia Foundation

Description

About Bleeding Disorders
Hemophilia is a genetic bleeding disorder that prevents the blood from clotting normally. The main symptom is uncontrolled, often spontaneous bleeding. Internal bleeding into the joints can result in pain, swelling and, if left untreated, can cause permanent damage.

Hemophilia results from a deficient protein known as a blood clotting factor. The two main forms are hemophilia A (factor VIII deficiency) and hemophilia B (factor IX deficiency). Hemophilia A occurs in 1 in 5,000 live male births. Hemophilia B occurs in 1 in 10,000 live male births. The worldwide incidence of hemophilia is estimated at more than 400,000 people. Approximately 70% of people around the world do not have access to treatment.

Currently, there is no cure for hemophilia. While treatment exists, it is costly and may require lifelong infusion of replacement clotting factor that is manufactured either from human plasma or using recombinant technology. Hemophilia occurs predominately in males. Women are carriers of the defective gene and may experience mild symptoms. In about one-third of cases there is no known family history of hemophilia. Instead the disorder results from a spontaneous genetic mutation.