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HEMOPHILIA

General Information

DEFINITION--An inherited deficiency of a blood-clotting factor that results in serious and sometimes dangerous bleeding, particularly following injuries. Hemophilia affects 1 in 10,000 males (no females) and appears early in childhood.

SIGNS & SYMPTOMS

  • Painful, swollen joints or swelling in the leg or arm (especially the knee or elbow) when bleeding occurs.
  • Frequent bruises following even minor injury. Major injuries can be life-threatening.
  • Excessive bleeding from minor cuts.
  • Spontaneous nosebleeds.
  • Blood in the urine.

    CAUSES & RISK FACTORS

    A deficiency of a coagulation factor passed to male children through the genes of a female carrier. All active athletic activities are risky for children with hemophilia, particularly violent contact sports such as football, soccer, boxing or wrestling.

    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 and signs.
  • Medical history and physical exam by a doctor. General physicians, internists and pediatricians will wish a consultation with a hematologist (medical doctor specializing in diseases of the blood and immune system).
  • Complicated and extensive laboratory blood studies.

    SURGERY

    None useful for hemophilia. Special precautions before and after unavoidable surgery for injuries will be explained in detail by your hematologist and surgeon.

    NORMAL COURSE OF ILLNESS

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

    POSSIBLE COMPLICATIONS

  • Dangerous bleeding episodes requiring emergency treatment.
  • Permanent joint disability caused by persistent bleeding into the joints.
  • Hepatitis from blood transfusions with contaminated blood. Until recently, those with hemophilia had an increased risk of contracting AIDS, but new techniques allow screening of donated blood. These tests assure an uncontaminated supply.

    HOW TO TREAT

    NOTE -- Follow your doctor's instructions. These instructions are supplemental.

    MEDICAL TREATMENT

    A hematologist will direct treatment of any bleeding episode when it occurs. You may require hospitalization or care in an outpatient facility for transfusions of plasma and various blood factors.

    HOME TREATMENT

  • If bleeding occurs spontaneously or following an injury, apply direct pressure by hand or elastic bandage. Apply ice packs or towels wrung out in ice water to the injured or bleeding part of the body. Rest the injured part with a splint or sling. Elevate the arm or leg above the level of the heart. Call your doctor immediately.
  • Wear a bracelet or pendant that identifies you as a person who has hemophilia.

    MEDICATION

  • Your doctor may prescribe: Medication to reduce joint pain. Transfusion of plasma or clotting factors.
  • Don't take aspirin. It may increase the possibility of bleeding.
  • Don't take any medicine without first consulting your doctor.

    ACTIVITY

    Avoid activities that can lead to injury, such as contact sports. Instead, work toward physical fitness by vigorous walking, swimming, jogging, cycling, or other activities that are not likely to cause injury or lead to overuse of a joint.

    DIET

    No special diet.

    CALL YOUR DOCTOR IF

  • You have symptoms of hemophilia.
  • The following occurs after diagnosis: Injury from any cause with swelling. This may indicate bleeding under the skin. Bleeding that isn't quickly controlled. Tenderness or pain in any joint.
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