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Journal of Biomedicine and Biotechnology
Volume 2005 (2005), Issue 4, Pages 322-325
http://dx.doi.org/10.1155/JBB.2005.322
Research article

Molecular Bases of β-Thalassemia in the Eastern Province of Saudi Arabia

1Department of Biochemistry, College of Medicine, King Faisal University, PO Box 2114, Dammam 31451, Saudi Arabia
2Department of Medical Laboratory Technology, College of Medicine, King Faisal University, Dammam 31451, Saudi Arabia
3Department of Pathology, College of Medicine, King Faisal University, Dammam 31451, Saudi Arabia
4Department of Pediatrics, College of Medicine, King Faisal University, Dammam 31451, Saudi Arabia
5Department of Internal Medicine, College of Medicine, King Faisal University, Dammam 31451, Saudi Arabia

Received 26 January 2005; Revised 1 June 2005; Accepted 9 June 2005

Copyright © 2005 Hindawi Publishing Corporation. 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

β-thalassemia is a group of heterogeneous recessive disorders common in many parts of the world. Al-Qatif and Al-Hassa oases in the Eastern Province of Saudi Arabia are regions known for high frequency of these disorders. Using two molecular methods, based on multiplexing-amplification refractory system and reverse hybridization principles, the spectrum of β-thalassemia in the region was studied. Sixty-nine subjects with known β-thalassemia disease and volunteers with high hemoglobin A2(HbA2) and low mean corpuscular volume (MCV) were included in this study. Ten mutations were detected in 91% of the subjects under study. Six of these mutations had previously been observed while the other four mutations are reported here for the first time. In addition, four of the mutations accounted for 76.8% of the subjects studied. IVSII-1 (G > A), IVSI-5 (G > A), and codon 39 (C > T) mutations were found to be the most frequent. However, the frequencies of different mutations reported here are slightly different from those reported earlier. A number of these mutations were also found in the neighboring countries, which can be explained in terms of gene flow.