Thalassemia

Thalassemia is a blood disease that is inherited due to mutation in the autosomal recessive chromosomes. Although there are many specialist who suggest that the disease may have been caused due to mutations or deletions in the autosomal chromosomes , and it leads to reduction or lack of production  one of the globin chains that is required for the production of hemoglobin.

There are two major types of thalassemia disease and these are known as alpha thalassemia and beta thalassemia. Although there is a common notion that the disease is caused due to autosomal recessive condition, there have been reports about the incidence of autosomal dominant expression of the disease. In this case it was found that there were two deletions in the chromosomes.

In autosomal recessive condition both the parents must be carriers of the mutant genes. In this case there is a twenty percent probability that each offspring of such parents would be affected by thalassemia. Therefore according to the medical experts, when a family has a medical history of this disorder, they must go for genetic counseling and genetic testing before getting married. In acute cases, the patient may require aggressive blood transfusion therapy, iron chelation, splenectomy and allergenic hematopoietic transplantation.

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