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Hemophilia A Causes and Risks:
Hemophilia is a group of hereditary bleeding disorders of specific blood clotting factors classified as hemophilia A and B. Hemophilia A is the most common of these disorders and is the result of a deficiency of clotting factor VIII. The disorder is caused by an inherited sex-linked recessive trait with the defective gene located on the X chromosome. Females are carriers of this trait. Fifty percent of the male offspring of female carriers have the disease and 50% of their female offspring are carriers. All female children of a male hemophiliac are carriers of the trait.
The severity of symptoms can vary with this disease, and the severe forms become apparent early on. Bleeding is the hallmark of the disease and typically occurs if an infant is circumcised. Additional bleeding manifestations make their appearance when the infant becomes mobile. Mild cases may go unnoticed until later in life when try occur in response to surgery or trauma. Internal bleeding may happen anywhere, and bleeding into joints is common. Risk factors are a family history of bleeding and being male. The incidence of hemophilia A is 1 out of 10,000 men.
Prevention:
Symptoms:
- bruising
- spontaneous bleeding
- bleeding into joints and associated pain and swelling
- gastrointestinal tract and urinary tract hemorrhage
- blood in the urine or stool
- prolonged bleeding from cuts, tooth extraction, and surgery
Signs and Tests:
Coagulation studies involving many tests are performed if the person tested is the first one in the family to have a bleeding disorder. Once the defect has been identified, other family members will need less testing to diagnose the disorder.
Treatment:
Standard treatment is infusion of factor VIII concentrates to replace the defective clotting factor. The amount infused depends upon the severity of bleeding , the site of the bleeding, and the size of the patient.
Mild hemophilia may be treated with infusion of cryoprecipitate or desmopressin (DDAVP), which causes release of factor VIII that is stored within the body on the lining of blood vessels.
To prevent a bleeding crisis, people with hemophilia and their families can be taught to administer factor VIII concentrates at home at the first signs of bleeding. People with severe forms of the disease may need regular prophylactic infusions.
Depending on the severity of the disease, DDAVP or factor VIII concentrate may be given prior to dental extractions and surgery to prevent bleeding.
Immunization with hepatitis B vaccine is necessary because of the increased risk of exposure to hepatitis due to frequent infusions of blood products.
Support Groups:
The stress of illness can often be helped by joining a support group where members share common experiences and problems. See hemophilia - support group .
Prognosis:
With treatment, the outcome is good; most people with hemophilia are able to lead relatively normal lives. A small percentage of people with hemophilia will develop inhibitors of factor VIII and may die from loss of blood.
Complications:
- Chronic joint deformities, caused by recurrent bleeding into the joint, may be managed by an orthopedic specialist.
- Recurrent transfusions may increase the risk of contracting AIDS and hepatitis , especially prior to 1985 when blood screening procedures were improved for detecting the AIDS virus. However, new heat processing treatment makes factor VIII material free of the AIDS virus and thus safe for use.
- Intracerebral hemorrhage is another possible complication (see deep intracerebral hemorrhage , lobar intracerebral hemorrhage ).
Call Your Healthcare Provider:
Call your health care provider if symptoms of a bleeding disorder develop.
Call for an appointment with your health care provider (for screening) if a family member has been diagnosed with hemophilia A.
Call for an appointment with your health care provider if you have hemophilia A and you plan to have children.
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