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-----from Discovery Channel----
hemophilia B By Thomas Fisher, MD
Hemophilia B is an inherited bleeding disorder
affecting mostly men. This disease interferes with the
blood's ability to clot.
What is going on in the body?
In hemophilia B the blood does not clot well. This is
caused by a deficiency of a blood protein that helps
form blood clots, called factor IX. Bleeding can be in
any part of the body. It can be external or internal.
Most of the time the disease shows up early in life.
This condition can be life threatening. Hemophilia B
is very similar to hemophilia A but is less common.
What are the signs and symptoms of the disease?
Problems usually start in early childhood. Severe
cases will cause:
bleeding problems
bruising without injury
nosebleeds
joint bleeding leading to arthritis and deformities
internal and bowel bleeding
blood in the urine
In someone with mild hemophilia, excessive bleeding
may occur only with injury or surgery.
What are the causes and risks of the disease?
People with this condition are usually males who
inherit an abnormal X chromosome from the mother.
Because women have 2 different X-chromosomes, they
usually do not get the disease. It is unclear why the
genetic defect occurs. The exact nature of the genetic
defect can vary. That is why there is a range of
severity of the disease.
What can be done to prevent the disease?
Hemophilia B is a genetic disease. The disease cannot
be prevented in a person who is born with this gene.
Genetic screening can tell individuals if they are
carriers of the disease. Since hemophilia B is a
treatable disease, genetic counseling before or during
pregnancy can be helpful to couples with a family
history of the disease.
An unborn fetus can also be tested for hemophilia. The
testing can be done as early as the first trimester,
with chorionic villi sampling or amniocentesis. These
tests carry a small risk of causing a miscarriage.
How is the disease diagnosed?
Hemophilia B is diagnosed by measuring factor IX
protein activity in the plasma. The severity of the
disorder is closely linked to factor IX activity. An
individual with mild disease has more factor IX
activity than those with severe disease. Other tests
that may be used in diagnosis include the partial
thromboplastin time, or PTT, and thrombin time, or PT.
These lab tests measure the clotting ability of the
blood.
What are the long-term effects of the disease?
Long term effects of hemophilia B are usually only
seen with moderate to severe disease. Possibilities
include:
anemia, or shortage of red blood cells bleeding into
the brain, resulting in strokes and mental
disabilities
damage from bleeding. This includes joint deformity,
arthritis, and muscle stiffness.
abnormal iron deposits in the liver and other organs,
which may cause damage
What are the risks to others?
This is not a contagious disease. Someone with
hemophilia or a family history of hemophilia may find
genetic counseling helpful. This will determine the
risk of passing on the abnormal gene to the children
or grandchildren.
What are the treatments for the disease?
An individual who develops bleeding problems needs to
be treated regardless of the severity of the disease.
Although fresh frozen plasma was used in the past,
factor IX concentrate has been the standard of care
for many years. This is purified, treated,
concentrated human plasma that is high in factor IX
activity. An individual's dose of factor IX and the
duration of
treatment are based on several factors. This includes
the baseline factor IX activity level, total body
weight, severity of bleeding, and site of bleeding.
Someone with internal bleeding or central nervous
system bleeding is treated more aggressively.
Factor IX is given by slow, intravenous infusion. A
person can do this at home. A person who requires
frequent infusions often has a central line surgically
implanted. This is a catheter that goes into one of
the large veins, and provides a painless way to give
the factor IX. Serious hemorrhage may require
treatment in the hospital.
Some persons have immune system problems that make
hemophilia B worse. These persons may require
treatment with medications to suppress the immune
system.
Chronic joint deformity due to hemophilia is becoming
less common. However, some individuals require
operations for joint problems. The most common sites
for surgery include the weight bearing bones of the
hips and knees.
What are the side effects of the treatments?
Too much infusion of factor IX can cause blood clots
to form in the veins. Medication to suppress the
immune system can make the person more susceptible to
infections.
Before current screening procedures, a factor IX
transfusion carried a risk of HIV or hepatitis .
Currently, with present screening techniques for
factor IX products, the risk of acquiring hepatitis
and HIV is very low. Individuals who have only been
receiving blood products in the past 10 years have a
very low
risk of acquiring hepatitis and HIV from factor IX
products.
What happens after treatment for the disease?
A person with hemophilia B is often tested after
treatment to measure how effective the factor IX
infusion has been. The site of bleeding may complicate
this evaluation.
How is the disease monitored?
Periodic testing of factor IX levels may be used to
help assess the response to treatment. It also can
determine when another treatment is necessary.
Monitoring may also require special x-ray tests,
surgery, or other blood tests.
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