A blood-clotting disorder that affects one in 10,000 boys, it is rare in girls. The disease is usually hereditary, passed to sons by symptom-free mothers who carry a defect that interferes with manufacture of a protein necessary for blood clotting. As many as one-third of boys born with hemophilia have no family history of the disease. Their illness is termed spontaneous.
Thanks to medical advances over the past 15 years, boys with hemophilia are now able to attend school and engage in physical activities, although some limitations are necessary in the most severe cases.
HOW DOES HEMOPHILIA DEVELOP?
The genetic defect in hemophilia causes deficiency of a clotting factor, which is a blood component essential for coagulation. Boys with abnormally low levels of clotting factors have trouble recovering from wounds, and they may develop internal bleeding.
The severity of the disease depends on the degree of clotting factor deficiency. Children with mild hemophilia may have problems only after surgery or serious injury. Moderate disease may cause one or two bleeding episodes a week, many without any apparent precipitating injury.
Hemarthrosis, a common complication of hemophilia, occurs when blood oozes repeatedly into soft tissue, muscles and joints (particularly the knees), causing pain and swelling and, in some cases, leading to deformity. For this reason, orthopedists (surgeons who specialize in the musculoskeletal system) often play a key role in managing hemophilia patients.
WHEN SHOULD I SUSPECT THAT MY CHILD HAS HEMOPHILIA?
A boy whose mother's family has a history of hemophilia can be given a blood-clotting test at birth. If there is no family history, abnormal bleeding may become apparent when the child begins to walk. He may develop large bruises after minor injuries or bleed excessively (for hours or even days) from minor cuts. Bleeding after circumcision is a common presenting sign, as well as excessive bleeding after the loss of a tooth.
HOW CAN THE PEDIATRICIAN TELL IF MY CHILD HAS HEMOPHILIA?
Hemophilia is diagnosed by a blood test that measures clotting time and the amount of the different clotting factors present in the patient's blood.
WHAT TREATMENTS ARE AVAILABLE?
Minor traumas often can be treated by applying cold compresses and pressure to the wound to induce clotting. More extreme bleeding episodes usually can be controlled with intravenous infusion of clotting factors. Hospitalization is sometimes necessary.
Clotting factor also can be used on a regular basis to prevent bleeding episodes. [If a child bleeds frequently, the physician may prescribe daily infusions. Infusions are scheduled before surgery or dental work.] Such infusions can be given at home after parents have learned the proper techniques.
COPING WITH HEMOPHILIA
Children with hemophilia used to live isolated, illness-oriented lives. Today's hemophilia therapies, however, are so advanced that the child can live a normal life if you take the following measures:
• Accident-proof your home as you would for any child.
• Guard against overprotectiveness. Too much emphasis on his illness and differences from other children can damage his self-esteem.
• As the child gets older, send him to regular school and allow him to play with friends.
• Encourage activities with a low risk of injury, such as swimming and hiking. Discourage contact sports.
• Have the child wear a MedicAlert medallion to notify others of his condition in case of emergency.
RISKS OF CLOTTING FACTOR REPLACEMENT
• About ten percent of patients treated with clotting factor develop inhibitors, antibodies in the blood that can neutralize their coagulating effects. Although the presence of inhibitors makes treatment with clotting factor more difficult, it is still possible.
• In the past, clotting factor had to be extracted from large pools of donated blood. Because this blood was taken from so many donors, the risks of hepatitis B and/or AIDS transmission was enormous. Fortunately, newer manufacturing techniques and careful donor screening and testing of the blood have greatly reduced these risks.
PREVENTING CHILDHOOD BLEEDING EPISODES
• Pad the child's crib and playpen to reduce the risk of trauma.
• Supervise the child carefully when he is learning to walk.
• Strictly avoid using aspirin or other drugs that reduce blood coagulation.
• Make sure the child is immunized against hepatitis B. Under current recommendations, all newborns receive this immunization within the first few days after birth.
• Teach the child proper tooth-brushing techniques early. Beginning at age two, take him for twice-yearly visits to a dentist familiar with hemophilia. These precautions will minimize the need for dental surgery.
GETTING HELP
Call your doctor if:
• You have a family history of hemophilia (especially on the mother's side) and are concerned that your child may be affected. (Ideally, a family history of hemophilia should be discussed with your obstetrician and pediatrician during pregnancy.)
• Your child shows any signs of abnormal bleeding.
