Hemophilia > updated 3-4-05

What is hemophilia?

Hemophilia is a rare, hereditary bleeding disorder in which certain proteins called clotting factors are deficient or missing. The two most common types of hemophilia are: Hemophilia A, which is the result of a deficiency in the clotting factor called factor VIII, and hemophilia B, which is caused by a deficiency of clotting factor IX. Only about 17,000 people in the US have hemophilia in its mild, moderate or severe form.

What are the signs & symptoms?

• Prolonged bleeding after circumcision,
dental work, surgery or trauma
• Internal bleeding - sometimes with no apparent trauma or injury
• Bleeding into joints, muscles or soft tissue
• Excessive bruising
• Abnormal Lab values (PT/PIT)

Is hemophilia inherited?

Hemophilia is called an X-linked generic condition since the abnormal hemophilia gene is carried by females on one of their X chromosomes. This will be passed on to offspring 50 percent of the time. Statistically, 50% of sons of a female carrier will have hemophilia and 50% of her daughters will be carriers. Daughters of males with hemophilia will be carriers. In up to 1/3 of all cases, there is no known family history. Hemophilia can occur as the result of a new or spontaneous mutation.

How is hemophilia diagnosed?

Hemophilia is diagnosed with specialized blood testing. These tests should be done at sites that have a coagulation lab to ensure accuracy.

In the 1950s, people were hospitalized regularly for blood transfusions or plasma infusions to treat hemophilia. Today, people get treatment quickly using clotting factor concentrates, making hospitalization the exception rather than the norm.

Why do we have special hemophilia treatment centers?

Since hemophilia is so rare, use of the many clotting factor products is not well understood by many physicians. Hemophilia treatment centers focus the knowledge and skills of physicians, nurses, social workers and other professionals experienced in hemophilia care. Published studies show that this multidisciplinary approach and the expert use of clotting factors result in effective and efficient care. (P.S. Smith et. al, Am. Journal of Public Health v74; J.M. Soucie, et.al, Journal Am. Society of Hematology v96.)

How is hemophilia treated?

Prior to 1986 when the test for HIV came into use, our nation's blood supply contained HIV, Hepatitis and other viruses. These viruses contaminated the plasma-based medicines used to treat people with hemophilia, resulting in the deaths of approximately half the people with hemophilia A in the U.S. Today, some adults treated prior to 1986 are living with HIV and/or Hepatitis. A new generation of much safer recombinanyt clotting factor products was introduced in the early 1990s.

Hemophilia can be treated by intravenous infusion of a replacement flotting factor product, DDAVP, Stimate™nasal spray or Amicar™ tablets. The treatment depends on the nature and severity of the bleeding problem.