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What is Thalassemia?
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What is Thalassemia?

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  • 1.  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.
  • 2.  AlphaThalassemia 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 AlphaThalassemia, ranging from mild to severe:  Silent Carrier State: Only a small lack of Alpha protein, so generally there are no health problems.  AlphaThalassemiaTrait or Mild AlphaThalassemia: 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 AlphaThalassemia Major causes stillbirth (death of an unborn fetus during pregnancy). Children born with Thalassemia Major, (Cooley’s Anemia), are normal at birth and developThalassemia during the first year of their life.
  • 3.  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.
  • 4. 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.
  • 5.  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.
  • 6.  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 someAfrican 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.