What Is Hemophilia?
Hemophilia is a rare, inherited
bleeding disorder in which the blood does not clot normally.
People who have it may bleed for a longer period of time following
an injury or accident. People with the disorder may also bleed
internally, especially in the joints (such as the knees, ankles,
and elbows).
Approximately 18,000 people in the United States have hemophilia,
and about 400 babies are born each year with this disorder in the
U.S. Although it usually occurs only in males, there are very rare
exceptions in which a female will have the blood disorder.
People with hemophilia have problems with certain proteins in
their blood, called clotting factors. Clotting factors help blood
to clot. Hemophilia can occur if there is a low level of one of
the clotting factors or if a clotting factor is completely
missing.
When clotting factors are missing, or your body does not have
enough clotting factors, it can take a long time for your blood to
clot after an injury or accident.
What
Causes Hemophilia?
Hemophilia is an inherited disease. Hemophilia is caused by a
defect in one of the genes that determines how the body makes
blood clotting factors 8 and 9. These genes are located on the X
chromosomes, which determine whether a baby is a boy or girl.
F8 and F9 Genes
Mutations in the F8 or F9 genes cause hemophilia. Mutations in the
F8 gene cause hemophilia A, while hemophilia B is caused by
mutations in the F9 gene.
The proteins made by these genes play a critical role in the
process of blood clotting. Mutations in either gene prevent clots
from forming in response to injury, which lead to excessive
bleeding that can be difficult to control.
Signs and Symptoms of
Hemophilia: An Overview
Hemophilia is a rare, inherited bleeding disorder. Approximately
18,000 people in the United States have this disorder. People with
hemophilia may bleed for a longer period of time following an
injury or accident; they may also bleed internally, especially in
the joints (such as the knees, ankles, and elbows). Common
symptoms of hemophilia include bleeding and bruising.
Hemophilia Treatment: Sources of
Clotting Factors
The clotting factor concentrates that
are used in replacement therapy come from two sources:
Blood from human donors
Lab-produced clotting factors
called "recombinant" factors, which are not made from human
blood.
Clotting factors from either
source are generally considered safe. However, recombinant factors
cannot carry viruses and are usually preferred for treating
hemophilia. Recombinant clotting factors work the same as natural
clotting factors.
Infusions need to be given once daily or more frequently when
treatment has begun because half of the activity of factor 8 is
gone in 8 to 12 hours and half of the activity of factor 9 is gone
in 12 to 24 hours.
Clotting factors used in replacement therapy today are powerful
and easy to store, mix, and use at home
Hemophilia Treatment:
Replacement Therapy to Prevent Bleeding
Some people may receive replacement
therapy on a regular basis to prevent bleeding. The goal of
replacement therapy is to keep the levels of clotting factors in
the blood high enough so that bleeding will not occur. This
hemophilia treatment is more likely to be used in people with
severe cases, and it is often used in children to prevent damage
to joints from bleeding.
Preventive replacement therapy can be given on a:
Long-term basis, usually two
to three times a week
Shorter-term basis, usually
every few months
Short-term basis, usually
before participating in an activity that could cause bleeding.
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