Congenital Factor Viii Deficiency Hemophilia A

Overview, Causes, & Risk Factors

Hemophilia A is an inherited condition. It results from a lack of an important blood clotting protein.

What is going on in the body?

An individual with hemophilia A has poor blood clotting. The missing clotting protein, which is called factor VIII, causes the problem. Hemophilia A is one of the most common inherited bleeding disorders. It affects primarily men.

What are the causes and risks of the disease?

Inheriting an abnormal X chromosome usually causes hemophilia. This chromosome is usually passed down from the mother. Men have only one X chromosome, while women normally have two. This means that a woman usually has to inherit two abnormal X-chromosomes, while men only need one, to get the disease. Because of this, males more commonly get hemophilia.

Symptoms & Signs

What are the signs and symptoms of the disease?

Problems usually start in early childhood. Severe cases will cause:

  • bleeding problems
  • bruising without injury
  • nosebleeds
  • joint bleeding leading to arthritis and deformities
  • internal and bowel bleeding
  • blood in the urine
  • In someone with mild hemophilia, excessive bleeding may occur only with injury or surgery.

    Diagnosis & Tests

    How is the disease diagnosed?

    Hemophilia A is diagnosed by measuring the level of factor VIII in the blood. Other blood tests may also be performed to make sure there is not another cause for low factor VIII levels.

    Prevention & Expectations

    What can be done to prevent the disease?

    Hemophilia A is a genetic disease. The disease cannot be prevented in a person who is born with this gene. Genetic screening can tell individuals if they are carriers of the disease. Since hemophilia A is a treatable disease, genetic counseling before or during pregnancy can be helpful to couples with a family history of the disease.

    An unborn fetus can also be tested for hemophilia. The testing can be done as early as the first trimester, with chorionic villi sampling or amniocentesis. These tests carry a small risk of causing a miscarriage.

    What are the long-term effects of the disease?

    Long term effects of hemophilia A are usually only seen with moderate to severe disease. Possibilities include:

  • anemia, or shortage of red blood cells
  • bleeding into the brain, resulting in strokes and mental disabilities
  • damage from bleeding. This includes joint deformity, arthritis, and muscle stiffness.
  • abnormal iron deposits in the liver and other organs, which may cause damage
  • What are the risks to others?

    This is not a contagious disease. Someone with hemophilia or a family history of hemophilia may find genetic counseling helpful. This will determine the risk of passing on the abnormal gene to the children or grandchildren.

    Treatment & Monitoring

    What are the treatments for the disease?

    A person with hemophilia A may receive regular transfusions of factor VIII. Other transfusions may be needed in an emergency or before surgery. Medications may also be needed for treatment of the condition or complications. For example, a medication called DDAVP may increase factor VIII levels.

    Factor VIII is given by slow, intravenous infusion. A person can do this at home. A person who requires frequent infusions often has a draw blood\ \give fluids\ \monitor central venous blood pressure\ central line surgically implanted. This is a catheter that goes into one of the large veins, and provides a painless way to give the factor VIII. Serious hemorrhage may require treatment in the hospital.

    Some persons have immune system problems that make hemophilia A worse. These persons may require treatment with medications to suppress the immune system.

    Chronic joint deformity due to hemophilia is becoming less common. However, some individuals require operations for joint problems. The most common sites for surgery include the weight bearing bones of the hips and knees.

    What are the side effects of the treatments?

    All medications have side effects, including allergic reactions and stomach upset. Surgery carries a risk of bleeding, infection or allergic reaction to the anesthesia.

    Before current screening procedures, a factor VIII transfusion carried a risk of HIV or hepatitis. Currently, with present screening techniques for factor VIII products, the risk of acquiring hepatitis and HIV is very low. Individuals who have only been receiving blood products in the past 10 years have a very low risk of acquiring hepatitis and HIV from factor VIII products.

    What happens after treatment for the disease?

    Lifelong treatment and monitoring are generally required.

    How is the disease monitored?

    An individual with severe disease may need to have factor VIII levels checked often. Others may require only periodic monitoring and blood tests.

    Article type: xmedgeneral