THALASSEMIA -AN OVERVIEW

Abstract

Thalassemia is a hereditary disorder found on chromosome 11 and chromosome 16, caused due to point mutation/insertion/deletion. It is one of the most prevalent single gene disorder found in the Indian population with a carrier frequency of 3-4%. The individuals are categorized into 3 types: homozygous, heterozygous and compound heterozygous. Where heterozygous individuals are normally carriers and homozygous and compound heterozygous are affected. The severity of this disorder lies on what type of mutation the gene carries. Previous studies showed the use of ARMS-PCR for the detection of targeted mutations and other showed the use of Sanger’s sequencing for the study of the mutation. Some new or rare mutations can also be detected through Sanger Sequencing and can help in studying the spectrum of the gene. The Clinical treatment involves blood transfusion or allogeneic stem cell transplant. There are lots of complications arising during treatment such as iron overloading. Detection of mutation in the family helps in prenatal testing to prevent the birth of affected children in the family.