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HEMOPHILIA

General Information

DEFINITION--An inherited deficiency of a blood-clotting factor that results in episodes of dangerous bleeding. Blood normally contains several factors that enable clotting to occur. The factors are designated I through XIII. In hemophilia A, the clotting factor VIII is deficient. Factors I-VII function properly, but the clotting process is then interrupted. Hemophilia B occurs less often and is caused by a deficiency of factor IX.

BODY PARTS INVOLVED--All body parts.

SEX OR AGE MOST AFFECTED--Affects 1 in 10,000 males, and appears early in childhood. Rarely in a female when her mother is a carrier and her father is hemophiliac.

SIGNS & SYMPTOMS

  • Painful, swollen joints or swelling in the leg or arm (especially the knee or elbow) when bleeding occurs.
  • Frequent bruises.
  • Excessive bleeding from minor cuts.
  • Spontaneous nosebleeds.
  • Blood in the urine.

CAUSES--The deficiency of a coagulation factor (X-linked recessive gene) is passed by an affected male to all of his daughters, but to none of his sons. These females become carriers of the condition. Some of the sons of female carriers may be affected, and some of the daughters of female carriers may themselves become carriers.

RISK INCREASES WITH--Positive family history of hemophilia.

HOW TO PREVENT--Cannot be prevented at present. If your family has a history of hemophilia, obtain genetic counseling before having children.


What To Expect

DIAGNOSTIC MEASURES--

  • Your own observation of symptoms.
  • Medical history and physical exam by a doctor.
  • Hemophilia is diagnosed by blood-clotting tests that reveal factor VIII (or IX) activity is abnormally low.

APPROPRIATE HEALTH CARE

  • Doctor's treatment. Doctor should be a qualified hematologist (blood specialist).
  • Hospitalization or care in an outpatient facility for transfusions of plasma and various blood factors.
  • Self-care.

POSSIBLE COMPLICATIONS

  • Dangerous bleeding episodes requiring emergency treatment.
  • Permanent joint disability caused by persistent bleeding.
  • Risk of contacting HIV/AIDS or hepatitis through donated blood problems is lessened with genetically engineered factor VIII product.

PROBABLE OUTCOME--This condition is currently considered incurable, but not fatal. If bleeding can be controlled, patients can expect a nearly normal life span. Scientific research into causes and treatment continues, so there is hope for increasingly effective treatment and cure.


How To Treat

GENERAL MEASURES--

  • Learn the signs and symptoms of bleeding episodes to watch for.
  • Bleeding episodes can usually be controlled with home care by self-administered replacement therapy.
  • For possible emergency situations, wear a bracelet or pendant that identifies you as a person who has hemophilia.
  • See Resources for Additional Information.

MEDICATION--

  • Your doctor may prescribe: Medication to reduce joint pain. Transfusions of plasma or clotting factors.
  • Don't take aspirin. It may increase bleeding.

ACTIVITY--Avoid activities that can cause injury, such as contact sports. Swim, bicycle or walk instead. Otherwise, no restrictions.

DIET--No special diet.


Call Your Doctor If

  • You have symptoms of hemophilia.
  • The following occurs after diagnosis: Injury with swelling. This may indicate bleeding under the skin. Bleeding that isn't quickly controlled. Tender, painful, swollen joint.
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