Hemophilia is a rare genetic bleeding disorder in which a person
inherits problems with certain blood clotting factors, making them unable to
work properly. Blood-clotting factors are needed to help stop bleeding after a
cut or injury and to prevent spontaneous bleeding.
The hemophilia gene can contain many different errors, leading to
different degrees of abnormality in the amount of clotting factor produced.
People who have hemophilia are at risk of abnormal bleeding throughout the
body, especially in the joints and muscles, which may lead to disabling joint
Hemophilia occurs almost exclusively in men. The disease can be
passed from a mother who is a carrier of the genetic
defect (but who does not have the disease) to her son. Rarely, a girl can have
hemophilia. This occurs only if she inherits a defective gene from both her
mother and her father.
Symptoms of hemophilia are usually first noticed during infancy or
childhood. However, some people who have milder forms of hemophilia may not
develop symptoms until later in life.
The following are signs of hemophilia that may be noticed shortly
Other symptoms of hemophilia include easy bruising, frequent
nosebleeds, blood in the urine, and bleeding after dental work.
Some people who have hemophilia may need to inject (infuse)
themselves with clotting factors to prevent uncontrolled bleeding. They may
need to do this either regularly or only before activities or situations (such
as surgery) when injury or bleeding may occur.
August 1, 2013
E. Gregory Thompson, MD - Internal Medicine & Brian Leber, MDCM, FRCPC - Hematology
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