8th May, 2012 is a World Thalassemia Day
What
is Thalassemia:
Thalassemia is a genetic blood
disorder in which children cannot make enough Red Blood Cells and needs to be
supplemented with RBC transfusions every 2-3 weeks to stay healthy and to
survive.
Thalassemia
is actually a group of inherited diseases of the blood that affect a person's
ability to produce hemoglobin, resulting in anemia. Hemoglobin is a protein in
red blood cells that carries oxygen and nutrients to cells in the body. About
100,000 babies worldwide are born with severe forms of thalassemia each year.
Thalassemia occurs most frequently in people of Italian, Greek, Middle Eastern,
Southern Asian and African Ancestry.
The
two main types of thalassemia are called "alpha" and
"beta," depending on which part of an oxygen-carrying protein in the
red blood cells is lacking. Both types of thalassemia are inherited in the same
manner. The disease is passed to children by parents who carry the mutated
thalassemia gene. A child who inherits one mutated gene is a carrier, which is
sometimes called "thalassemia trait." Most carriers lead completely
normal, healthy lives.
A
child who inherits two thalassemia trait genes - one from each parent - will
have the disease. A child of two carriers has a 25 percent chance of receiving
two trait genes and developing the disease, and a 50 percent chance of being a
thalassemia trait carrier.
Most
individuals with alpha thalassemia have milder forms of the disease, with
varying degrees of anemia. The most severe form of alpha thalassemia, which
affects mainly individuals of Southeast Asian, Chinese and Filipino ancestry,
results in fetal or newborn death.
A
child who inherits two copies of the mutated gene for beta thalassemia will have
beta thalassemia disease. The child can have a mild form of the disease, known
as thalassemia intermedia, which causes milder anemia that rarely requires
transfusions.
Thalassemia is a genetic disease. This
means that:
Is there a test for
thalassemia?
Blood
tests and family genetic studies can show whether an individual has thalassemia
or is a carrier. If both parents are carriers, they may want to consult with a
genetic counselor for help in deciding whether to conceive or whether to have a
fetus tested for thalassemia.
Prenatal
testing can be done around the 11th week of pregnancy using chorionic villi
sampling (CVS). This involves removing a tiny piece of the placenta. Or, the
fetus can be tested with amniocentesis around the 16th week of pregnancy. In
this procedure, a needle is used to take a sample of the fluid surrounding the
baby for testing.
Assisted
reproductive therapy is also an option for carriers who don't want to risk
giving birth to a child with thalassemia. A new technique, pre-implantation
genetic diagnosis (PGD), used in conjunction with in vitro fertilization, may
enable parents who have thalassemia or carry the trait to give birth to healthy
babies. Embryos created in-vitro are tested for the thalassemia gene before
being implanted into the mother, allowing only healthy embryos to be selected.
Focus:
To help children, we must donate our valuable blood
regularly (three months gap must be there).
8th of May every year, World Thalassemia Day is
celebrated. So, let’s start the good cause of donating Blood on this day.
Source:
http://sunilpatelahmedabad.blogspot.in/
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Thanks with Regards,
Sunil Patel
Ahmedabad
