Table of Contents
Molecular Biology International
Volume 2010 (2010), Article ID 479282, 4 pages
http://dx.doi.org/10.4061/2010/479282
Research Article

𝜷 -Thalassemia Mutations among Transfusion-Dependent Thalassemia Major Patients in Northern Iraq

1Department of Pathology, College of Medicine and Scientific Research Center, University of Dohuk, Dohuk, Iraq
2Department of Medicine, College of Medicine, Hawler Medical University, Erbil, Iraq
3Scientific Research Center, University of Dohuk, Dohuk, Iraq
4Thalassemia Care Center, Dohuk, Iraq

Received 23 February 2010; Accepted 11 May 2010

Academic Editor: George Adrian Calin

Copyright © 2010 Nasir A. S. Al-Allawi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Molecular defects responsible for 𝛽 -thalassemias (thal) were investigated among 254 chromosomes from 127 transfusion-dependent unrelated thalassemic patients from two provinces in Northern Iraq. Among fourteen identified mutations, the seven most common found in 88.2% of the thal chromosomes were: IVS-II-1 ( G A ), IVS-I-1 ( G A ), codon 8 ( A A ), codon 39 ( G T ), codon 8/9 ( + G ), codon 44 ( C ), and codon 5 ( C T ). There were some notable differences in frequencies of various mutations in comparison to other Eastern Mediterranean populations, as well as between the two provinces studied. The latter illustrates the relative heterogeneity of the mutations distribution in Iraq, and the need to screen other areas of the country, to ensure establishing an effective prenatal program.