American Medical Association Family Medical Guide - American Medical Association [370]
Hemophilia
Hemophilia is an inherited bleeding disorder in which the body does not produce an adequate supply of a protein called antihemophilic globulin (factor VIII), which is essential for proper blood clotting. The disorder usually affects males, but it is passed from one generation to the next by females who carry the gene. In the United States, about 1 in 10,000 males has hemophilia. Nearly 75 percent of people who have hemophilia have a family history of the disease. However, the remaining 25 percent are the first in their family to have the disease, which usually results from a mutation (spontaneous change) in their mother’s genes.
Effective treatments have greatly reduced the risk of disability and death from hemophilia. However, care must be taken to avoid serious injuries, which can be life-threatening for a person who has hemophilia.
Symptoms
Although occasionally a male infant with hemophilia will have prolonged bleeding after circumcision, the symptoms of hemophilia usually don’t appear until a child becomes active. Bruises form on the knees and elbows when the child crawls, and internal bleeding from falls can produce large, deep bruises that can cause pain and swelling in an arm or leg that last for several days or weeks. Recurring bleeding into joints and the resulting formation of scar tissue stiffen the joints and limit the child’s movement and flexibility. The degree of bleeding can vary greatly among people with hemophilia. If you have a son who has symptoms of hemophilia, or if you are an adult male and you notice that you bruise easily, see a doctor as soon as possible.
Diagnosis
If you have symptoms of a bleeding disorder, your doctor may recommend that you see a hematologist (a doctor who specializes in treating diseases of the blood) for an accurate diagnosis. The hematologist will ask about your health history and family health history (to see if any of your close relatives have had bleeding problems) and will perform a physical examination. He or she will order blood tests to measure the amount of blood-clotting factors in your blood and evaluate how well the blood-clotting factors are working.
Because hemophilia is usually inherited, women who have a family history of the disorder and who plan to have children should seek genetic counseling (see page 952) before becoming pregnant. A blood test can confirm whether a woman is carrying the defective gene. During pregnancy, diagnostic tests such as CVS (chorionic villus sampling; see page 511) and amniocentesis (see page 510) can determine if a fetus has hemophilia and enable doctors to plan for possible treatment for the child.
Treatment
If you have hemophilia, unless it is a mild case, your doctor will recommend that you avoid participating in activities that could cause injury, including all contact sports. He or she may recommend moderate exercise such as walking, jogging, or swimming as an alternative. Your doctor will also recommend that you avoid taking aspirin, drugs that contain aspirin, or any nonsteroidal anti-inflammatory drugs because they increase the risk of uncontrolled bleeding. Also, special precautions such as infusions of factor VIII (the deficient clotting substance in hemophilia) to prevent uncontrolled bleeding must be taken before you have any type of surgery, including dental treatment. For people with mild cases, the hormonal drug desmopressin can raise factor VIII levels temporarily.
Preventive treatment for hemophilia involves regular infusions of factor VIII; people can be taught to give themselves these infusions by injection. If you have an injury, any bleeding or bruising that occurs can be stopped with an infusion of factor VIII, which may involve a short hospital stay. These infusions are safe—genetically engineered factor VIII is available that avoids the risk of infection with HIV and other microorganisms, and all blood from donors is screened for HIV, hepatitis, and other disease-causing microbes.
If you or your child has hemophilia, you may be given a card indicating that you