Hemophilia Overview

What Is Hemophilia?

Hemophilia is a common inherited blood coagulation disorder, in which one of the factors needed to clot the blood is lacking. It affects nearly one out of every 10,000 males. (Females may inherit the gene and be carriers for the disease, but are otherwise unaffected.) Outcome varies; the lower the amount of coagulation factors, the more severe the disease. Mild hemophilia may go undiagnosed until adulthood when prolonged bleeding occurs following surgery or an injury; moderate cases may be associated with bouts of uncontrolled bleeding; severe cases are marked by frequent episodes of bleeding into the joints and soft tissues.

The development of hematomas—accumulations of blood inside an organ, muscle, soft tissue, or body cavity—can cause potentially serious secondary symptoms. For example, bleeding into the brain may cause severe headaches, personality changes, paralysis, coma, or even death. About half of all hemophiliacs experience bleeding into the joints, resulting in arthritis-like symptoms. Also, because hemophiliacs often require numerous transfusions of blood products, they are at increased risk for blood-borne infections such as hepatitis or AIDS, although such risks have diminished due to improvements in the methods of blood-product preparation and the screening of donated blood. With current medical treatment and vigilant self-care, even patients with severe hemophilia may live relatively normal lives.

What Causes Hemophilia?

• Hemophilia A (classic hemophilia), accounting for 80 percent of cases, results from genetic deficiency of Factor VIII, also known as antihemophilic factor. Hemophilia B (Christmas disease) results from a deficiency in Factor IX. Both factors are necessary for normal blood coagulation. Because the genes for the factors are carried on the X chromosomes, hemophilia only affects males; women may be carriers and pass the disorder to their offspring.

Symptoms of Hemophilia

• Frequent and extensive bruises
• Prolonged bleeding that may not occur until several days after an injury or a procedure such as tooth extraction.
• Spontaneous bleeding for no apparent reason
• Painful uncontrolled bleeding into joints or muscles, causing swelling, tenderness, and possibly deformity. Joint pain may precede external evidence of bleeding
• Blood in the urine or stool
• Headache, paralysis, or coma from bleeding into the brain
• Chronic nosebleeds
• Excessive bleeding (e.g., from biting down on the tongue or lips, after surgery or tooth loss)
• In newborn babies, bleeding in the head after a difficult delivery

Prevention

• There is no way to prevent hemophilia, although those with a family history of it may benefit from genetic counseling when considering having a child.

Diagnosis of Hemophilia

• Patient history (including family history) and physical examination are necessary.
• Blood tests are taken to measure clotting time and blood levels of Factors VIII and IX.

How to Treat Hemophilia

• Avoiding activities that carry a high risk of injury as well as medications (such as aspirin) that promote bleeding is recommended.
• A bleeding episode can be stopped by intravenous infusion of the missing coagulation factor. Factor VIII can often be administered by the patient himself; early treatment is best.
• Regular preventive doses of clotting factors may be taken in severe cases, but such treatment is very expensive and may induce antibody formation. Patients on a home care regimen require clinical evaluation every six months to a year.
• Episodes of uncontrollable bleeding require hospitalization and prolonged infusions of the missing clotting factor.
• Physical therapy may be advised to rehabilitate damaged joints. Activities such as swimming are encouraged; contact sports should be avoided.
• Desmopressin (DDAVP) injection or nasal spray may help stop bleeding by increasing levels of clotting factor.
• In 10 to 15 percent of patients, development of an inhibitor to Factor VIII renders treatment ineffective.

When to Call a Doctor

• See a doctor if you have a bout of uncontrolled bleeding.

Source:

Johns Hopkins Symptoms and Remedies: The Complete Home Medical Reference

Simeon Margolis, M.D., Ph.D., Medical Editor

Prepared by the Editors of The Johns Hopkins Medical Letter: Health After 50

Updated by Remedy Health Media