Hemophilia/Thrombophilia Treatment Center

The Hemophilia/Thrombophilia Treatment Center at the University of Connecticut Health Center and Connecticut Children's Medical Center is a federally funded treatment center specializing in the care of patients with bleeding or clotting disorders. Staff members include hematologists, nurse specialists, physical therapists, social workers, dentists, orthopedic surgeons, and a genetics counselor.

What is Hemophilia?

Hemophilia is an inherited bleeding disorder characterized by a deficiency of the blood coagulation factor VIII (hemophilia A) or factor IX (hemophilia B; Christmas disease). It is a relatively rare disorder affecting approximately one out of 10,000 males. Affected individuals can have spontaneous muscle or joint bleeding or bleeding at other sites. The clinical severity is dependent upon the residual amount of blood clotting factor in the blood. Individuals with the most severe disorder have complete absence of either factor VIII or IX in the blood. Individuals with less severe disease have levels greater than zero but below the normal range. These two disorders are inherited as "X-linked" disorders which mean that females can be carriers of the disorder but are usually not affected with symptoms. Daughters of affected males will be carriers but the sons of affected males will be unaffected.

Treatment rests on the infusion intravenously of purified factor (factor VIII or factor IX). The currently available products include those that are derived from human plasma and from which the factor is purified and the product is virally inactivated (so-called monoclonal products) and those produced by recombinant technology. These latter products are not derived from human plasma but rely on the ability of cells in culture to make factor VIII or factor IX after the gene for these proteins has been inserted into the cells. DDAVP, a non-blood product, may be used for treating those individuals with mild and moderate hemophilia A.

Von Willebrands Disease

Von Willebrands disease is an inherited bleeding disorder characterized by low levels of von Willebrand factor in the blood. Von Willebrand factor is a large protein that helps blood platelets stick to the site of an injury and thereby decrease bleeding in response to trauma. Von Willebrand disease is a relatively common (approximately one in 500 people have this disorder) and usually mild bleeding disorder. Common sites of excessive bleeding include nose, mouth, and skin (easy bruising), prolonged bleeding after dental or surgical procedures and in women after delivery of a child. Women with von Willebrand disease may have heavy or prolonged menstrual bleeding. This disorder affects males and females with equal frequency. Treatment, in many instances, is with a medicine called DDAVP that can be administered intra-nasally (sniffing through the nose) or intravenously. Patients with rarer forms of von Willebrand disease may not be good candidates for treatment with DDAVP.

Other Bleeding Disorders

Other bleeding disorders, including deficiencies of other coagulation factors such as factor XI and defective platelet function, are also inherited disorders that can lead to excessive bleeding.

Women with bleeding disorders may present with heavy menstrual bleeding in addition to other typical bleeding problems (gum bleeding, nose bleeding). Some women with excessive menstrual bleeding have been found to have an inherited bleeding disorder such as von Willebrand disease, platelet abnormality, or may even be a carrier of hemophilia A or B. There are a number of treatments available for many of these women that target the blood clotting problem and can decrease the rate and duration of menstrual bleeding.

Thrombosis

Thrombosis represents the development of a blood clot which leads to an illness such as stroke, heart attack, blood clot in the leg veins (deep vein thrombosis; DVT) or clot in the lungs (pulmonary embolism; PE). We now know that some individuals with blood clots have inherited disorders of some blood proteins that have made them more likely to develop a blood clot.

Individuals likely to have an inherited disorder include those individuals who:

• have had a blood clot at a young age,
• have repeated episodes of blood clots,
• have a family history of abnormal blood clots especially at a young age, or
• have blood clots in unusual locations (i.e., intestinal veins, liver veins).

Treatment of Blood Clots

Treatment of a blood clot usually relies on the use of drugs called anticoagulants. Heparin medications are frequently used for the initial treatment and then warfarin (Coumadin) is used for long-term prevention. Aspirin and other drugs can also be useful. The type of drug, dose of drug, and duration of therapy depend upon a number of factors including location of blood clot and reasons for the blood clot, among other things.