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Introduction
Hemophilia is a rare genetic bleeding disorder found
almost exclusively in males.
Coagulation, or clotting, is the body's mechanism to
halt bleeding. It involves at least 14 sequential
steps, each requiring a specific plasma protein or
"factor" normally found in the blood. In hemophilia,
one of the factors required for the clotting sequence
is deficient or absent. The two most common forms of
hemophilia are hemophilia A and hemophilia B.
Hemophilia A and B have similar symptoms. Hemophilia A
is much more common (accounting for 80% of all cases).
Causes
Hemophilia A, is caused by a deficiency in
clotting factor VIII.
Hemophilia B, or Christmas disease, is the result of a
deficiency in clotting factor IX.
Symptoms
Patients with hemophilia may present with bleeding
anywhere, but most commonly into joints (knees,
ankles, elbows), into muscles, and from the digestive
tract. Those with severe hemophilia may bleed
spontaneously.
The hallmark of hemophilia is prolonged bleeding
after an injury. However, this type of bleeding is not
the only potential problem. Other signs of hemophilia
are frequent bruising, a hard lump under a bruise,
swelling in certain joints, pain or numbness when
using a particular limb, headaches, nausea, unequal
pupil size and slurred speech. These additional
symptoms are due to hidden internal bleeding.
Treatment The clotting deficiency that marks hemophilia can
be temporarily corrected with transfusions of blood
plasma, plasma concentrates, or genetically
manufactured factor VIII. Plasma concentrates can be
self-administered at the first sign of bleeding.
For those with mild cases of hemophilia A, a drug
called desmopressin (DDAVP) can be used to stimulate
the production of clotting factor VIII after a minor
injury or dental procedure.
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