Dr. M.J. Bazos, MD
Patient Handout
HEMOPHILIA
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.TreatmentOnce
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.Websites:MedWeb
Hematology: http://www.gen.emory.edu/medweb.hematology.htmlMedMark
Hematology: http://medmark.bit.co.kr/hematol.htmlWorld
Federation of Hemophilia: http://www.wfh.org/