Hemoglobin Subunit Beta Gene Polymorphism rs33949930 TC and Risk of Sickle Cell Disease—A Case Control Study from Tabuk (Northwestern Part of Saudi Arabia).pdfVIP

International Journal of Clinical Medicine, 2016, 7, 25-31 Published Online January 2016 in SciRes. /journal/ijcm /10.4236/ijcm.2016.71004 Hemoglobin Subunit Beta Gene Polymorphism rTC and Risk of Sickle Cell Disease—A Case Control Study from Tabuk (Northwestern Part of Saudi Arabia) 1 2 1* Rashid Mir , Fawzia Sharaf , Abu-Duhier FM 1 Prince Fahd Bin Sultan Research Chair, Division of Cancer Molecular Genetics, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Kingdom of Saudi Arabia 2 King Khaled Hospital, Ministry of Health, Tabuk, Kingdom of Saudi Arabia Received 9 December 2015; accepted 19 January 2016; published 22 January 2016 Copyright © 2016 by authors and Scientific Research Publishing Inc. This work is licensed under the Creative Commons Attribution International License (CC BY). /licenses/by/4.0/ Abstract Background: Sickle cell disease and sickle cell trait are common erythrocyte disorders that are most often caused by a point mutation (rs334, designated HbS) in the hemoglobin beta gene (HBB); however of this fact, there is extreme variability in occurrence and clinical presentation of sickle cell disease which may be explained by some other genetic changes associated with the gene. In the present study we examined the association between HBB gene polymorphism rTC in the occurrence of sickle cell disease in Saudi Arabia population. Materials and Methods: A case control study of 100 sickle cell disease patients and 100 healthy controls from Tabuk, Saudi Arabia. HBB gene rTC polymorphism was analyzed using Allele specific polymerase chain reac- tion technique. Results: It was observed that the genot