Abstract

Thalassemia, is one of the most common genetic diseases in many countries. There are two common types of thalassemia, alpha and beta. Prevalence of thalassemia-causing mutations is different among various parts of the world and even within different ethnic groups living in our country. In addition to clinical, biochemical and hematologic diagnostic methods, some molecular techniques are used for prenatal diagnosis of thalassemia. On the basis of the present study, the following mutations are common in our country: IVS I-5(G>C), IVS II-1(G>A), FSC36/37(-T), IVS I-110(G>A), FSC 8/9(+G), IVS I-1(G>A), FSC8(-AA), IVSI-25 bp, CD30(G>C) and FSC44(-C). These mutations are about 80 of all mutations. Mutation IVS II-1 (G> A) is common across the country but other mutations may be common among other specific ethnic groups. In this study, those publications related to research over the prevalency of beta thalasemia mutation were studied and analyzed and the common mutations in different provinces of the country are presented. Understanding the molecular mechanism underlying the disease would improve identifying the clinical features of disease and facilitate application of preventing programs and treatment for the disease. © 2015, Semnan University of Medical Sciences. All rights reserved.