Transcript What is Thalassemia?

Thalassemia is the name of a group of
inherited blood disorders. Hemoglobin, the
part of red blood cells that carries the oxygen,
is made up of 2 proteins, Alpha and Beta. If
the body has an imbalance, the red blood
cells cannot carry enough oxygen.
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Alpha Thalassemia is when you do not have enough protein in
your hemoglobin. It is commonly found in people from Africa,
the Middle East, India, Southeast Asia, Southern China and
sometimes the Mediterranean. There are several types of
Alpha Thalassemia, ranging from mild to severe:
 Silent Carrier State: Only a small lack of Alpha protein, so
generally there are no health problems.
 Alpha Thalassemia Trait or Mild Alpha Thalassemia: Lacking
enough protein to cause mild symptoms sometimes, which are
similar to iron deficiency anemia.
 Hemoglobin H disease: Enough Alpha protein lacking to cause
severe anemia and significant health problems. Such as bone
deformities, enlarged spleen and fatigue. The most severe
form of Alpha Thalassemia Major causes stillbirth (death of an
unborn fetus during pregnancy). Children born with
Thalassemia Major, (Cooley’s Anemia), are normal at birth and
develop Thalassemia during the first year of their life.
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symptoms include:
Bone deformities in the face
Fatigue
Growth Failure
Yellow Skin
*Persons with the minor form of Alpha Beta
Thalassemia have small red blood cells, but
no symptoms.
Treatment
Patients with thalassemia minor usually do
not require any specific treatment.
Treatment for patients with thalassemia major
includes chronic blood transfusion therapy,
iron chelation, splenectomy, and allogeneic
hematopoietic transplantation.
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Medication
Medical therapy for beta thalassemia primarily involves
iron chelation. Deferoxamine is the intravenously or
subcutaneously administered chelation agent currently
approved for use in the United States. Deferasirox (Exjade)
is an oral iron chelation drug also approved in the US in
2005. Deferoprone is an oral iron chelator that has been
approved in Europe since 1999 and many other countries.
It is available under compassionate use guidelines in the
United States.
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Being a carrier of the disease may confer a degree of
protection against malaria, as it is quite common
among people of Italian or Greek origin, and also in
some African and Indian regions. This is probably by
making the red blood cells more susceptible to the
less lethal species Plasmodium vivax, simultaneously
making the host's red blood cell (RBC) environment
unsuitable for the merozoites of the more lethal strain
Plasmodium falciparum. This is believed to be a
selective survival advantage for patients with the
various thalassemia traits. In that respect it resembles
another genetic disorder, sickle-cell disease.