Thalassemia

Thalassemia Thalassemia is an autosomal recessive disorder. It is caused by gene mutation resulting Principles of Inheritance and Variation in excessive destruction of RBC’s due to the formation of abnormal haemoglobin molecules. Normally haemoglobin is composed of four polypeptide chains, two alpha and two beta globin chains. Thalassemia patients have defects in either the alpha or beta globin chain causing the production of abnormal haemoglobin molecules resulting in anaemia. Thalassemia is classified into alpha and beta based on which chain of haemoglobin molecule is affected. It is controlled by two closely linked genes HBA1 and HBA2 on chromosome . Mutation or deletion of one or more of the four alpha gene alleles causes Alpha Thalassemia . In Beta Thalassemia, production of beta globin chain is affected. It is controlled by a single gene (HBB) on chromosome . It is the most common type of Thalassemia and is also known as Cooley’s anaemia. In this disorder the alpha chain production is increased and damages the membranes of RBC.