About Bleeding Disorders

Hemophilia is a sex-linked, hereditary blood clotting disorder that results in excessive bleeding. In about one-third of the cases, there is no family history of the disorder. The underlying cause is missing or deficient protein (called factor) that is needed for blood to clot. The bleeding can occur spontaneously and/or after injury. Bleeding episodes may be external or internal into joints, muscles, the abdominal cavity, the brain, and other organs. Untreated bleeds can lead to crippling deformities of the joints or life threatening bleeds within the body. Currently, there is no cure.

According to the Centers for Disease Control and Prevention (CDC), Hemophilia affects approximately 20,000 people in the United States. About 400 babies are born each year with the disorder. All ethnic backgrounds and economic groups are affected equally.

There are two main types of hemophilia: Hemophilia A is the most common type and affects about 85% of all the people with the disorder. Hemophilia B, known as Factor IX deficiency or Christmas disease, affects about 14% of all the people with hemophilia, and the remaining 1% of people with hemophilia lack or have a deficiency in other blood clotting proteins.

von Willebrand Disease (vWD) is an inherited bleeding disorder with similarities to hemophilia. About 1-2% of the U.S. population (over 4.5 million people) are believed to have the gene. vWD is caused by a decreased or defective function of a protein called von Willebrand factor (vWD), which is necessary for normal blood clotting. The disease affects men and women.

von Willebrand disease is classified into three subtypes. Types I and III demonstrate quantitative abnormalities in the vW proteins, whereas Type II shows a qualitative abnormality. Type I is the most common form of vWD, accounting for at least 70% of all cases. Type I is also the most difficult to diagnose definitively because the three factors measured may all be at borderline levels in a patient with clinical disease. Symptoms include excessive bleeding from the gums and from cuts, nosebleeds, and in women, excessive menstrual bleeding. In the most severe forms, deep bleeding into joints and muscles occurs.

Hemophilia is treated with factor replacement therapy, which involves the intravenous infusion of blood clotting products to replace the missing or deficient protein needed for the blood to clot. Infusions must be given as soon as possible after the start of bleeding. Alternatively, the patient can take regular doses of factor as prophylaxis (preventive treatment). Optimal care for a patient with hemophilia can be found at a Comprehensive Hemophilia Treatment Center (HTC). HTCs were created by federal law at locations determined by the state and comprise a medical team including a physician, nurse, social worker, and physical therapist.

Before 1965, hemophilia was treated with a slow transfusion of whole blood or fresh frozen plasma. In 1965, a plasma extract called cryoprecipitate became available that made Hemophilia A treatment much easier and more effective. By the early 1970s, clotting factor for Hemophilia A and B became available in a concentrated, freeze-dried form. This significantly improved quality of life and increased life expectancy from 11 years in 1931 to 60 years in 1980. However, because the clotting factor was made from the blood of many donors, the majority of those with hemophilia were infected with hepatitis B and C viruses (HBV and HCV) and with the human immunodeficiency virus (HIV), the virus that causes AIDS. This occurred before the risk of disease transmission in blood products was fully recognized and preventative measures taken. The Federal government recognized this national tragedy in 1998 with the passage of the Ricky Ray Hemophilia Relief Fund Act which provided compassionate payments to people with hemophilia who had contracted HIV from the use of contaminated blood products. Since 1987, no persons with hemophilia have become HIV positive from clotting factor. In 1992, the first recombinant DNA derived clotting factor for use in persons with hemophilia A was approved by the U.S. Food and Drug Administration (FDA).

A person with mild vWD may be treated with an intravenous or intranasal medicine boosts their factor VIII and vWF levels. Persons with more severe vWD may require transfusions of a von Willebrand-containing blood product.