If you ride a skateboard or play a sport, you probably know
about bruises and banged-up knees and elbows. But for guys with a
rare bleeding disorder called hemophilia (pronounced: hee-muh-
fih
-lee-uh), minor cuts and bruises can be a big deal.
What Is Hemophilia?
Hemophilia
is a disease that prevents blood from clotting properly, so
a person who has it bleeds more than someone without
hemophilia does. It's a genetic disorder, which means it's
the result of a change in genes that was either inherited (passed
on from parent to child) or occurred during development in the
womb. "Hemo" means blood and "philia" means a
tendency toward. A person who has hemophilia has a tendency to
bleed excessively. Hemophilia affects mostly boys, although
it's very rare: Only about 1 in every 5,000 boys is born with
it. The disease can affect people of any race or nationality.
When most people get a cut, the body naturally protects itself.
Sticky cells in the blood called platelets go to where the bleeding
is and plug up the hole. This is the first step in the clotting
process. When the platelets plug the hole, they release chemicals
that attract more sticky platelets and also activate various
proteins in the blood known as
clotting factors
. These proteins mix with the platelets to form fibers, and these
fibers make the clot stronger and stop the bleeding.
Our bodies have 12 clotting factors that work together in this
process (numbered using Roman numerals from I through XII). Having
too little of factors VIII (8) and IX (9) is what causes
hemophilia. A person with hemophilia will only lack one factor,
either factor VIII or factor IX, but not both.
There are two major kinds of hemophilia. About 80% of cases are
hemophilia A, which is a factor VIII deficiency. Hemophilia B is
when factor IX is lacking.
Hemophilia is classified as mild, moderate, or severe, based on
the amount of the clotting factor in the person's blood. If
someone produces only 1% or less of the affected factor, the case
is called severe. Someone that produces 2% to 5% has a moderate
case, and someone that produces 6% to 50% of the affected factor
level is considered to have a mild case of hemophilia. In general,
a person with milder hemophilia may only bleed excessively once in
a while, whereas severe hemophilia puts someone at risk for having
bleeding problems much more often.
Most people with hemophilia discover they have the condition
when they are babies or young kids. Sometimes the disease is so
mild that a guy doesn't even know he has it until he has minor
surgery
- like getting his tonsils or
appendix
out - and it's found in blood tests that doctors perform before
surgery.
What Causes Hemophilia?
Men and women each have 23 pairs of chromosomes (pronounced:
kro
-muh-soamz). Women have two X chromosomes; men have one X and one Y
chromosome. Hemophilia is an X-linked genetic disorder, which means
that it's passed from mother to son on the X chromosome. If the
mother carries the gene for hemophilia on one of her X chromosomes,
each of her sons will have a 50% chance of having hemophilia.
Although girls rarely develop the symptoms of hemophilia itself,
they can be carriers of the disease. For a girl to get hemophilia,
she would have to receive the disease on the chromosome she
receives from her father, who would have hemophilia, as well as
from the X chromosome of her mother, who would be a carrier.
Although this is not impossible, it is highly unlikely.
What Are the Signs and Symptoms?
If you've just found out you have hemophilia, you probably
have a milder form of the disease.
Symptoms of hemophilia include:
- bruises that are unusual in location or number
-
nosebleeds
that won't stop
- excessive bleeding from biting a lip or having a tooth
pulled
- painful or swollen joints
- blood in the urine
What Do Doctors Do?
Doctors diagnose hemophilia by performing blood tests. Although
the disease can't be cured (except by a liver transplant), it
can be managed.
A cut or minor wound is usually no big deal for a person with
hemophilia, just as it isn't for someone without the disease.
However, internal bleeding can be serious. When bleeding occurs in
the joints, muscles, or internal body organs, treatment is
necessary. Patients with more serious cases of hemophilia often get
regular shots of the factor that they're missing - known as
clotting factor replacement therapy
- to prevent bleeding episodes. The clotting factors are transfused
to the person through an IV to his vein, and can be given in the
hospital, at the doctor's office, or at home.
People with moderate or mild cases of hemophilia usually
don't need these shots unless they have a serious injury or
require surgery.
If you have hemophilia, you are probably used to working with a
medical team of hematologists (doctors who specialize in blood
disorders), nurses, and social workers. Your medical team can help
you learn to recognize how it feels when you bleed internally (the
place where the bleeding is happening will probably feel warm and
tingly or bubbly). This is important to know because when you begin
to bleed internally you need to
infuse
(replace) the missing clotting factor right away to make the
bleeding stop. Putting off doing so can cause damage to the
joints.
If you will be injecting the clotting factors at home, your
treatment team will probably teach you and your parents how to mix
the clotting factor and inject it into a vein. If you have bleeds
fairly often, though, your doctor might consider having you infuse
clotting factor regularly to prevent bleeds from happening in the
first place. If that's the case, you might get a small tube
called a portacath, or port, implanted in your chest. That way, you
never have to worry about finding a vein and there's no pain
when the infusion is done.
Scientists are working on something called
gene therapy
for people with hemophilia. Gene therapy is an experimental
technique that tries to provide the body with the genetic
information it doesn't have. Hemophilia is considered a good
test for gene therapy because it is caused by only one defective
gene. Scientists hope that they will be able to provide people with
hemophilia with the genetic information they need to produce their
own missing clotting factors.
Living With Hemophilia
If you have hemophilia, your day-to-day life is probably pretty
normal. Exercise is important for teens with hemophilia because it
makes muscles stronger, which protects the joints and decreases
bleeds. Swimming and cycling are great because they don't put
pressure on the joints. In fact, you can participate in just about
any
sport
, although team sports, such as soccer, basketball, or baseball,
present a higher risk and all contact sports (like football,
boxing, lacrosse, and hockey) are off-limits because there's a
high risk of injury.
It's also important to maintain a
healthy weight
because extra pounds can strain the body. And don't take any
product that contains aspirin, ibuprofen, or naproxen sodium. All
of these can keep blood from clotting.
If you have hemophilia and want to hang out with other people
who have the disease, think about going to a camp for teens with
hemophilia. You do all the fun stuff they have at any camp, but you
also learn how to take the very best control of your condition.
At times you might feel really overwhelmed. Try to remember that
you're not alone. Talk to your mom or dad, your doctor, a
nurse, or anyone on your treatment team. They can help you deal
with the emotional aspects of having hemophilia.
Having hemophilia doesn't mean you can't work out, have
a girlfriend, or do most of the things that guys like to do. You
just have to be smart about your condition. Learn everything you
can so you can take care of yourself and make choices that are
right for you.
Reviewed by:
Gregory C. Griffin, MD
Date reviewed: September 2007
Note: All information is for educational purposes only. For specific medical advice,
diagnoses, and treatment, consult your doctor.
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