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Understanding Hemophilia -- Diagnosis and Treatment

How Do I Know if I Have Hemophilia?

Normally, when bleeding begins, a complex series of chemical events produces a "plug" to stop the bleeding; this plug is called a fibrin clot. The fibrin clot is the end-product of many different "clotting factors" reacting in the blood. Hemophilia is an inherited condition in which one of these clotting factors (factor VIII or IX) is absent from the blood, so that it does not clot normally. If your health care provider suspects that you have hemophilia, you will be given blood tests to examine how well your blood creates this clot. A lab mixes your blood with specific chemicals in a test tube, to produce a fibrin clot. If such tests are abnormal, other blood tests are done to determine the amounts of factors VIII and IX in the blood. These tests help doctors diagnose the type of hemophilia and its severity.

What Are the Treatments for Hemophilia?

Treatments for hemophilia include:

  • Receiving clotting factors
  • Medication
  • Treatment for joint bleeding and other problems associated with hemophilia

The treatments you need will depend on the type of hemophilia and the severity of hemophilia. For instance, if you have mild hemophilia, you may need treatment only when you've been injured or in preparation for surgery. However, if you have severe hemophilia and bleed frequently, you may need regular treatment to prevent bleeding and protect your joints from deformity and disability.

Clotting Factors for Hemophilia

People with hemophilia receive the appropriate clotting factor (factor VIII or factor IX). The clotting factor is given intravenously (through a needle in your vein) to stop or prevent bleeding. Factor preparations come from two sources:

  • Donated blood plasma
  • Synthetic (DNA-derived)

Medication for Hemophilia A

If you have a mild form of hemophilia, a medication called desmopressin acetate (DDAVP) can temporarily increase the concentration of factor VIII in your blood. DDAVP can be given intravenously, through an injection, or in the form of nasal spray.

Treatment for Joint Bleeding and Other Problems

Other health problems associated with hemophilia may need treatment. The most common include:

  • Treating bleeding joints
  • Monitoring physical activities

For bleeding joints, doctors recommend resting and icing the affected joint to decrease pain and swelling. As pain and swelling subsides, physical therapy may help you recover joint mobility and strength.

Monitoring physical activity may be necessary to prevent injury and internal bleeding. Your doctor will discuss the types of physical activities that are appropriate and what kinds of activities may be too dangerous. Your doctor's advice depends on the severity of hemophilia.

Possible Complications from Hemophilia Treatment

Complications from treatment for hemophilia include:

  • Acquiring a blood-borne disease
  • Changes to the immune system that make the treatment less effective

Acquiring a blood-borne disease: In the past, people receiving clotting factor from donated blood ran the risk of contracting a blood-borne disease. In fact, in the late 1970s and 1980s many people with hemophilia acquired viruses such as HIV (the virus that causes AIDS) and hepatitis. Now, potential blood donors are carefully screened and all donated blood is tested for viruses. Donated blood is also processed to inactivate any unrecognized viruses. The chance of contracting any disease through treatment is extremely low. Still, if you have hemophilia it is important for you to receive immunizations for hepatitis A and B to prevent you from becoming infected with these viruses.

Changes to the immune system: Your immune system may begin to recognize the administered clotting factor as foreign and then destroy it. This makes your treatment ineffective. Your doctor will want to monitor your (or your child's) blood for such a reaction.

WebMD Medical Reference

Reviewed by Kimball Johnson, MD on March 29, 2013

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