Bleeding Disorders and Clotting Disorders

What is hemophilia?

Hemophilia is a rare, inherited bleeding disorder in which there is a deficiency of factor VIII (hemophilia A) or factor IX (hemophilia B). These factors help the blood clot properly. 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. In some cases, women who are carriers of hemophilia can have low enough factor levels to cause bleeding symptoms.

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 of Hemophilia

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.

What is Von Willebrand disease?

Although Von Willebrand disease is the most common inherited bleeding disorder, it is often more mild than hemophilia. Von Willebrand disease affects about 1 out of every 100 persons. Von Willebrand disease is caused by deficient or defective Von Willebrand factor (VWF). This is a protein that is normally found in the cells that line the blood vessels. This protein has two functions: binding to factor VIII to protect it from being destroyed in the blood and binding to platelets to promote clotting. Von Willebrand disease can be passed to a child from either parent.

Types of Von Willebrand disease

• Type I: Low VWF, normal VWF structure
• Type II: Low VWF, abnormal VWF structure
• Type III: Absent VWF

Common Symptoms of Von Willebrand disease

• Heavy menses
• Easy bruising
• Epistaxis (nosebleeds)
• Excessive bleeding following surgery, childbirth, or dental work

Bleeding into the joints is rarely seen in persons with type I VWD, but may be seen in persons with type III VWD.

Diagnosis of Von Willebrand disease

A combination of special blood tests that measure factor VIII, VWF and platelet function are required to make a diagnosis of VWD.

Treatment of Von Willebrand disease

The treatment of Von Willebrand disease depends on the severity and type. Treatment may involve the administration of a nasal spray or the intravenous injection of DDAVP, a medicine that releases VWF from its stores inside blood vessels or clotting factor. The appropriate treatment is determined by the physician at the treatment center.