Dr. M.J. Bazos, MD Patient Handout


About Your Diagnosis

Hemophilia is a genetically transmitted disease that predisposes to excessive bleeding. Hemophilia is hereditary. It is relatively rare, occurring among 1 per 10,000 to 30,000 newborn boys. It is usually transmitted to the male offspring by their mothers. Women usually have no symptoms. The reason is simple: Hemophilia is transmitted by the X chromosome. Women have two X chromosomes, and men have only one. Women can have one affected chromosome, but the other one compensates with normal genes. That does not occur among men, causing the disease. Hemophilia predisposes to bleeding. This is caused by the lack of one of the important factors necessary for blood coagulation, factor VIII. The severity of this disease depends on how much of the factor is present in the circulation. Some patients can bleed from the time they are born, whereas others rarely bleed.

Living With Your Diagnosis The most characteristic manifestation of hemophilia is bleeding into one of the large joints, such as the knee. This condition usually begins once a child reaches the toddler stage but can occur spontaneously at any time in more severe cases. With time this condition can develop into chronic joint contracture, especially if the patient is not treated. Other bleeding manifestations include blood in the urine or mouth or bleeding after trauma or a surgical procedure. Persons with milder hemophilia may not experience bleeding until an operation is performed or after a tooth extraction. With tooth extractions, the procedure usually is completed without problems, but within a few hours, the tooth socket begins to ooze, and healing is disrupted. In the presence of any trauma, the patient should go to the hospital immediately. There the proper physical examination and tests help determine whether the patient needs blood factor replacement. Whenever a patient with hemophilia needs a surgical procedure, factor VIII level must be brought to normal. The therapy may persist for many days once the operation is over.

Once the diagnosis of hemophilia is established, the patient should be treated at a specialized center. When the bleeding starts, it is imperative that treatment be initiated promptly. To prevent further damage, any bleeding into a muscle or joint must be stopped as soon as possible. It is recommended that once the bleeding episode begins, so should the treatment, usually as self-infusion of factor VIII. Once started at home, supplementation can continue at the hospital, under a doctor’s supervision. How safe is the therapy? Factor VIII is a derivative of blood. As with every blood product, use of factor VIII carries risk for transmission of diseases such as hepatitis B and C as well as human immunodeficiency virus (HIV) infection. Lately these products have become safer, going through many purification processes. Disease transmission has decreased to almost zero. Can hemophilia be prevented? Hemophilia is genetically transmitted. As such, it can be identified in the affected family. Consulting a physician may be important to determine whether one is at risk to transmit the disease to one’s offspring. Some centers can provide detailed information through studying the patient’s blood and that of family members.

The DOs
• Notify your physician before dental extractions or any type of operation.
• Notify your physician if you experience any excessive bleeding.
• Go immediately to the closest emergency room if you experience severe trauma.
• Participate in regular exercise, such as swimming.

The DON’Ts
• Do not participate in contact sports.
• Do not use aspirin, ibuprofen (eg, Motrin, Advil), naproxen (eg, Aleve), or other nonsteroidal anti-inflammatory drugs (NSAIDs).
• Avoid intramuscular injections.

When to Call Your Doctor
• If you are to undergo a tooth extraction.
• If you are to undergo any surgical procedure.

MedWeb Hematology: http://www.gen.emory.edu/medweb.hematology.html
MedMark Hematology: http://medmark.bit.co.kr/hematol.html
World Federation of Hemophilia: http://www.wfh.org/