Download Hemophilia

HEMOPHILIA
Jessica Martin
2nd period
WHAT IS HEMOPHILIA?
Hemophilia is a medical condition in
which the ability of the blood to clot is
severely reduced, causing the
sufferer to bleed severely from even
a slight injury.
CAUSES
• Hemophilia is caused by a mutation in one of the genes located on the
X chromosome.
• This particular gene provides instructions for making the clotting factor
proteins needed to form a blood clot. This change can prevent the
clotting protein from working properly or can cause it to be missing
completely.
• Men have a greater chance to inherit the disease because they only
have one copy of the X chromosome, whereas women have two and
deactivate one of them.
• Although hemophilia does run in some families, some families have no
prior history of family members with the disease.
SYMPTOMS
Common symptoms of hemophilia include:
 Bleeding into the joints which can cause swelling and pain or
tightness.
 Bleeding into the skin (bruising).
 Muscle causing a build-up of blood in the area, known as a
hematoma.
 Severe bleeding of the mouth and gums, especially hard to stop after
losing a tooth.
 Severe bleeding after having shots, or vaccinations.
 Blood in the urine or stool.
 Frequent and hard-to-stop nosebleeds.
Bleeding in the head and brain can cause long term problems, such as
seizures and paralysis. Death can occur if the bleeding cannot be
stopped or if it occurs in a vital organ.
TYPES
There are several different types of hemophilia; however, these
two types are the most common.
 Hemophilia A (Classic Hemophilia)
This type is caused by a lack or decrease of clotting factor
VIII. It occurs in about one in 5000 male births and affects
about 25,000 individuals in the US.
 Hemophilia B (Christmas Disease)
This type is caused by a lack or decrease of clotting factor IX.
It occurs in about one in 25,000 male births and affects about
3,300 people in the US.
Both types affect all races and ethnic groups equally.
TREATMENT
The best way to treat hemophilia is to replace the missing
blood clotting factor so that the blood can clot properly.
This is done by infusing (through a vein) commercially
prepared factor concentrates. People with the disease can
learn how to perform these infusions themselves in case
of bleeding episodes and, by performing the infusions on
a regular basis, can even prevent the episodes from
occurring.
Extreme joint swelling due to
bleeding within.
Bruising within the skin.