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The term Thalassemia implies a genetic disorder of an extremely heterogenous group which is characterised by a reduced or erroneous production of haemoglobin, the respiratory pigment contained in the red cells.
The most serious form of this genetic disorder also known as "ß-Thalassemia or Cooleys Disease.
Thalassemia is an inherited disorder. It is sometimes called Mediterranean anemia, von Jaksch anemia or Cooley's anemia, named after the physicians who first diagnosed it.
Thalassemia occurs when one or more of the genes fails to produce protein, leading to a shortage of one of the subunits. If one of the beta globin genes fails, the condition is called beta thalassemia.
Beta thalassemia, therefore, is due to a shortage of beta subunits. If an alpha globin gene fails, the condition is called alpha thalassemia. In this case, a shortage of alpha subunits occurs.
Other forms of Thalassemia
- Thalassemia minor
- Thalassemia major
Cause of Thalassemia
Thalassemia is an inherited condition. The genes received from one's parents before birth determine whether a person will have thalassemia. Thalassemia cannot be caught or passed on to another person. The clinical severity of thalassemia varies tremendously depending on the exact nature of the genes that a person inherits.
Thalassemia Symptom
Treatment of Thalassemia
The most common treatment for all major forms of thalassemia is red blood cell transfusions.
Heredity and Thalassemia
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.
Test for Thalassemia
Blood tests and family genetic studies can show whether an individual has thalassemia or is a carrier. In addition, prenatal testing using chorionic villus sampling (CVS) or amniocentesis can detect or rule out thalassemia in the fetus. Early diagnosis is important so that treatment can prevent as many complications as possible.
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