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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 rs33949930 T>C 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 rs33949930 T>C polymorphism was analyzed using Allele specific polymerase chain reaction technique. Results: It was observed that the genotype percentages TT, TC and CC among the patients with sickle cell disease were 63.0%, 35.0% and 2.0% and healthy controls were 68.0%, 27.0% and 5.0% respectively. Allele frequency for T allele was observed to be fT = 0.20 and fT = 0.19, where as for C allele was fC = 0.80 and fC = 0.81 among cases and controls respectively (p = 0.29). Compared to the TT genotype, the odds ratio of 1.4 (95% CI 0.76 - 2.57), risk ratio of 1.2 (95% CI 0.86 - 1.65) and risk difference of 8.4 (-6.66 - 23.38) for heterozygous genotype of HBB rs33949930 T>C was observed in relation to sickle cell disease. In addition, some difference in the laboratory values was observed among sickle cell disease patients with the different variants of HBB gene rs33949930 T>C polymorphism, especially the carriers of heterozygous TC genotype; however, the difference doesn’t reach to statically significant number. Conclusion: Present study suggested that there was not any significant association between HBB gene rs33949930 T>C polymorphism and occurrence of sickle cell disease. However, the heterozygous TC genotype of the polymorphism showed some higher ratios among cases as compared to healthy control group.

international journal of clinical medicine

Hemoglobin Subunit Beta Gene Polymorphism rs33949930 T&amp;gt;C and Risk of Sickle Cell Disease—A Case Control Study from Tabuk (Northwestern Part of Saudi Arabia)