An overview of thalassaemia disease

Abstract

Cooley’s anemia, Mediterranean anemia and thalassaemia major, all refer to a severe, inherited form of anemia first described in 1925 by Dr. Thomas Benton Cooley, an American Pediatrician. There are two types of thalassaemia that are alpha-thalassaemia and beta-thalassaemia. Their names describe which part of the hemoglobin molecule that is affected, the alpha or the beta chain. Any deficiency in these chains causes abnormalities in the formation, size, and shape of red blood cells (RBCs). Thalassaemia can cause ineffective production of RBCs and their destruction. As a result, people with thalassaemia often have a reduced number of RBCs in the bloodstream that lead to anemia, which can affect the transportation of oxygen to body tissues. In addition, thalassaemia can cause RBCs to be smaller than normal or drop hemoglobin in the RBCs to below-normal levels. Therefore, all the features are used in order to prove the disease in screening procedure. This paper critically reviews and summarizes some of the techniques involved in diagnosis, treatment and prevention of thalassaemia disease