Pak Chairul,
Ini artikel tentang penyakit tersebut, saya juga baru
tahu kalau Hemophilia ada 2 jenis, yang tipe B akan
saya kirim berikutnya. Dari artikel ini kita tahu
bahwa penderita harus menjalani perawatan seumur
hidup, tetapi apabila caranya benar, anak akan
bertahan hidup seperti orang normal lainnya.
Mamanya Dafi
-----from Discovery Channel----
hemophilia A By Thomas Fisher, MD
Hemophilia A is an inherited condition. It results
from a lack of an important blood clotting protein.
What is going on in the body?
An individual with hemophilia A has poor blood
clotting. The missing clotting protein, which is
called factor VIII, causes the problem. Hemophilia A
is one of the most common inherited bleeding
disorders. It affects primarily men.
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?
Inheriting an abnormal X chromosome usually causes
hemophilia. This chromosome is usually passed down
from the mother. Men have only one X chromosome, while
women normally have two. This means that a woman
usually has to inherit two abnormal X-chromosomes,
while men only need one, to get the disease.
Because of this, males more commonly get hemophilia.
What can be done to prevent the disease?
Hemophilia A 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 A 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 A is diagnosed by measuring the level of
factor VIII in the blood. Other blood tests may also
be performed to make sure there is not another cause
for low factor VIII levels.
What are the long-term effects of the disease?
Long term effects of hemophilia A 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?
A person with hemophilia A may receive regular
transfusions of factor VIII. Other transfusions may be
needed in an emergency or before surgery. Medications
may also be needed for treatment of the condition or
complications. For example, a medication called DDAVP
may increase factor VIII levels. Factor VIII 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 VIII.
Serious hemorrhage may require treatment in the
hospital.
Some persons have immune system problems that make
hemophilia A 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?
All medications have side effects, including allergic
reactions and stomach upset. Surgery carries a risk of
bleeding, infection or allergic reaction to the
anesthesia. Before current screening procedures, a
factor VIII transfusion carried a risk of HIV or
hepatitis . Currently, with present screening
techniques for factor VIII 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 VIII products.
What happens after treatment for the disease?
Lifelong treatment and monitoring are generally
required.
How is the disease monitored?
An individual with severe disease may need to have
factor VIII levels checked often. Others may require
only periodic monitoring and blood tests.
--- Chairul <[EMAIL PROTECTED]> wrote:
> Para netters,
> Anak teman saya (laki-laki) masih bayi menurut
> dokter menderita penyakit
> hemophili. Menurut kebanyakan orang penyakit ini
> membuat penderitanya
> meninggal di usia muda. Barangkali diantara
> bapak/ibu punya pengalaman yang
> sama saya butuh informasinya. terima kasih
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