Hemophilia

WHAT YOU SHOULD KNOW

Hemophilia is an inherited bleeding disorder found almost exclusively in males. Because his blood won't clot, a person with hemophilia is liable to suffer excessive loss of blood after any major cut. Bleeding due to hemophilia also occurs within the joints and muscles, and can be very painful. Although we now have ways of preventing the worst consequences of the disease, there is no permanent cure.

Causes

Normal clotting requires the presence of certain proteins (clotting factors) in the blood. In a person with hemophilia, one of these factors is either completely missing or in short supply. The disease is passed from mother to son by an abnormal X chromosome. (Girls, who receive a second, normal, X chromosome from their dad, are spared the disease.)

The majority of those with hemophilia are born with the disorder, which usually becomes apparent in infancy. However, a small percentage get the disease later in life due to a spontaneous antibody development. There are two classes of hemophilia:

• Class A, or classic hemophilia, is caused by a deficiency in clotting factor VIII.
• Class B, or Christmas disease, is the result of a deficiency in clotting factor IX.

Bleeding problems due to hemophilia range from mild to severe.

Signs/Symptoms

The hallmark of hemophilia is prolonged bleeding after an injury. However, this type of bleeding is not the only potential problem. Other signs of hemophilia are frequent bruising, a hard lump under a bruise, swelling in certain joints, pain or numbness when using a particular limb, headaches, nausea, unequal pupil size and slurred speech. These additional symptoms are due to hidden internal bleeding.

Care

The clotting deficiency that marks hemophilia can be temporarily corrected with transfusions of blood plasma, plasma concentrates, or genetically manufactured factor VIII. Plasma concentrates can be self-administered at the first sign of bleeding.

Two types of concentrate are available. Cryoprecipitate is made from the blood of a single donor. Lyophilized factor VIII concentrate is prepared from the pooled plasma of several thousand donors. In the early 1980s, the pooled concentrate was responsible for the spread of HIV to most hemophiliacs. Now, however, the concentrate is either heat-treated or decontaminated with detergent, and is said to be safe.

For those with mild cases of hemophilia A, a drug called desmopressin (DDAVP) can be used to stimulate the production of clotting factor VIII after a minor injury or dental procedure.

Risks

Any delay in treating a bleeding episode can be dangerous and painful. While small surface cuts are typically not a problem, deeper cuts and many surgical procedures can cause uncontrolled, prolonged bleeding that leads to death if not remedied within hours. Unchecked bleeding into a joint will allow a large volume of blood to accumulate, making resorption more difficult and prolonged, and eventually leading to arthritis.

WHAT YOU SHOULD KNOW

Although hemophilia cannot be cured, there are a number of measures you can take to reduce the risk of bleeding:

• For children, follow the immunization schedule for your area to ensure that your child's vaccinations are always current.
• Ensure that all injections are given under the skin or into a vein, and not into the muscles, where they can cause extended bleeding. Apply pressure for five minutes afterwards.
• See your dentist regularly and maintain clean, healthy teeth and gums. Teeth that are not cleaned well promote gum disease (gingivitis), in which the gums bleed easily and excessively. Fluoride supplements may be advised to reduce the risk of gum disease.
• Exercise regularly. An exercise program will help build strong muscles and joints, and thereby reduce the risk of internal bleeding.
• Avoid drugs that promote bleeding, such as aspirin, heparin, warfarin and nonsteroidal anti-inflammatory drugs (NSAIDs).

Seek Care Immediately If...

• Your child becomes unconscious.
• Your child suffers a severe, deep cut that will not stop bleeding or starts bleeding again after first aid.
• Your child suffers a head injury and subsequently develops headache, nausea, or vomiting. Your child suffers from joint or muscle pain. Do not wait to see if swelling will occur.
• You see blood in the child's urine or bowel movements.
• You notice bleeding or swelling around the child's neck.
• Your child complains of otherwise unexplained abdominal pain.

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