About Hemophilia
Hemophilia is an inherited bleeding disorder caused by a deficiency or defect of one of the proteins necessary for blood to properly clot. These proteins are known as clotting factors. The type and severity of a person’s hemophilia depends on which protein is involved and to what degree they are deficient. The most common forms are Hemophilia A (classic hemophilia) which is a deficiency of Factor VIII and Hemophilia B (Christmas Disease) which is a deficiency of Factor IX.

The genes that produce factor VIII and factor IX are located on the X chromosome. Women have two X chromosomes while males have one X and one Y chromosome. If a male inherits an affected X chromosome from his mother (who is known as a carrier), he will have hemophilia. In 30% of cases, the hemophilia is not inherited but arises as a spontaneous mutation. Hemophilia is typically expressed in males and carried in females. Women who are carriers of the hemophilia gene may also exhibit abnormal bleeding. This occurs when their factor VIII or IX level is below normal.

Severity of Hemophilia
The severity level is consistent among family members. Normal factor VIII or IX level is 50-200%. Mild hemophilia patients have a factor level between 6-50% and generally need to receive factor for surgery and injuries. Moderate hemophilia patients have a factor level between 1-5% and generally need to receive factor for injuries. Severe hemophilia patients have a factor level of less than 1% and can bleed spontaneously or without injury.

Diagnosis of Hemophilia
There are special blood tests used to diagnose hemophilia. Although there is not yet a cure for hemophilia, living easily with hemophilia is now possible with the advent of clotting factor concentrates that can be infused even at home.

Treatment
The treatment of hemophilia involves the intravenous injection of clotting factor for acute bleeding or for prevention of bleeding. For adults and children who bleed frequently, prophylaxis is strongly recommended as it reduces or eliminates orthopedic problems, days missed from work and improves quality of life. For those who bleed less frequently, the replacement of clotting factor is given only for acute bleeds.

A network of treatment centers that specialize in the diagnosis and treatment of bleeding disorders, such as Hemophilia and von Willebrand Disease, exists. In this region, you can contact the Hemophilia Center of Western PA for more information or to schedule an appointment.

Hemophilia Center of Western Pennsylvania
3636 Boulevard of the Allies
Pittsburgh, PA 15213-4306

Margaret V. Ragni, M.D., M.P.H.
Medical Director, Hemophilia Center of Western PA
Professor of Medicine, Department of Medicine, Division of Hematology/Oncology, University of Pittsburgh

Phone: 412-209-7280 Fax: 412-209-7281