What is hemophilia?

Symptoms of hemophilia vary depending on the type and severity of hemophilia. Some children with mild hemophilia (factor levels of 5-50% of normal) do not have symptoms until they have surgery, an accident, or a dental procedure. Those with moderate or severe hemophilia (factor levels of 1-5% of normal) may have symptoms of external and/or internal bleeding that begin shortly after birth. It is important that children with hemophilia and their families be aware of the signs and symptoms of bleeding and that treatment be administered as soon as possible.

Symptoms may include:

• Bleeding from the mouth with the loss of teeth
• Blood in the urine or stool
• Bleeding in the knees, ankles, elbows or other joints following injury
• Nosebleeds
• Increased bruising
• Muscle bleeding with injury
• Bleeding into the brain following head trauma
• Bleeding episodes following injury or surgery and sometimes occur without any obvious injury.

The genetic mutation that causes hemophilia affects approximately one in 5,000 men. Young women are carriers of the hemophilia trait but sometimes can experience symptoms of hemophilia.

The treatment used is individualized for each patient and situation, depending upon the type of hemophilia, its severity and the type of bleeding that is occurring.

Anytime a person has problems with bleeding, the R.I.C.E. technique may help decrease the amount of bleeding. The R.I.C.E. technique involves:

• Rest
• Ice the area bleeding
• Compression of the area bleeding, using bandages, Lycra, or other snug-fitting materials
• Elevation of the area bleeding above heart level

Factor replacement therapy may be necessary. Replacement therapy involves injecting a clotting factor concentrate into the blood via a vein. Clotting factor can be made from human plasma or can be genetically engineered (recombinant),

Replacement therapy can be provided on a regular basis to prevent bleeding (prophylactic therapy) or may be used only to stop bleeding after it has occurred (on-demand therapy). The infusions can be performed at home by the child or his family or through the infusion center. The clotting factor can be injected through a vein or through a surgically implanted port.

Other medications may be helpful in certain circumstances. Antifibrinolytic medicines such as Amicar help slow the breakdown of clots once they are formed. They are particularly useful in mucous membrane bleeding such as nosebleeds, mouth bleeding or intestinal bleeding. Desmopressin (DDAVP) is a man-made hormone, given by injection or nasal spray, that can sometimes be used to treat those with mild hemophilia A when they experience bleeding symptoms.