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Hemophilia

Hemophilia is an inherited bleeding, or coagulation, disorder. Children with hemophilia lack the ability to stop bleeding because of the low levels, or complete absence, of specific proteins, called "factors," in their blood that are necessary for clotting. Proper clotting of blood helps prevent excessive bleeding. Hemophilia affects 1 in 10,000 males (no females) and appears early in childhood.

Types of Hemophilia

The two main types of hemophilia are:

• Hemophilia A: Clotting factor VIII (8) is low or missing. About 9 of 10 people with hemophilia have type A.
• Hemophilia B: Clotting factor IX (9) is low or missing.

Causes

Men and women each have 23 pairs of chromosomes (pronounced: kro -muh-soamz). Women have two X chromosomes; men have one X and one Y chromosome. Hemophilia is an X-linked genetic disorder, which means that it's passed from mother to son on the X chromosome. If the mother carries the gene for hemophilia on one of her X chromosomes, each of her sons will have a 50% chance of having hemophilia.

Although girls rarely develop the symptoms of hemophilia itself, they can be carriers of the disease. For a girl to get hemophilia, she would have to receive the disease on the chromosome she receives from her father, who would have hemophilia, as well as from the X chromosome of her mother, who would be a carrier. Although this is not impossible, it is highly unlikely.

Signs and symptoms

• Painful, swollen joints or swelling in the leg or arm (especially the knee or elbow) when bleeding occurs.
• Frequent bruises following even minor injury. Major injuries can be life-threatening.
• Excessive bleeding from minor cuts.
• Spontaneous nosebleeds.
• Blood in the urine.

Diagnosis

For people with a family history of hemophilia, it's possible to test the fetus during pregnancy to determine if the child is affected by the disease.

Analysis of a blood sample from either a child or an adult can show a deficiency of a clotting factor. Sometimes, mild hemophilia isn't diagnosed until after a person has undergone surgery and excessive bleeding results

Treatment

Medical Treatment- A hematologist will direct treatment of any bleeding episode when it occurs. You may require hospitalization or care in an outpatient facility for transfusions of plasma and various blood factors.

Home Treatment

• If bleeding occurs spontaneously or following an injury, apply direct pressure by hand or elastic bandage. Apply ice packs or towels wrung out in ice water to the injured or bleeding part of the body. Rest the injured part with a splint or sling. Elevate the arm or leg above the level of the heart. Call your doctor immediately.
• Wear a bracelet or pendant that identifies you as a person who has hemophilia.

Prevention

Cannot be prevented at resent. If your family has a history of hemophilia, obtain genetic counseling before having children.