What is Thalassemia?

Thalassemia is a blood disorder and a common inherited disease with no cure, except bone marrow transplantation and a costly procedure entailing certain risks. Most of the patients of the genetic disorder have to endure blood transfusion for life, however, it can be controlled through prenatal diagnoses.

A blood related genetic disorder is the simplest response to this not so simple disorder.  It involves the absence of genes responsible for the production of hemoglobin, a vital composite present in the red blood cells. Each red blood cell can contain between 240 and 300 million molecules of hemoglobin. The severity of the disease depends on the mutation involved in the genes, and their interplay.

A hemoglobin molecule has sub-units commonly referred to as alpha and beta. Both sub-units are necessary to bind oxygen in the lungs properly and

deliver it to tissues in other parts of the body. Genes on chromosome 16 are responsible for alpha subunits, while genes on chromosome 11 control the production of beta subunits. A lack of a particular subunit determines the type of thalassemia (e.g. a lack of alpha subunits results in alpha-thalassemia). The lack of subunits thus corresponds to errors in the genes on the appropriate chromosomes.

There can be various gradations of the disease depending on the gene and the type of mutations.