SERDAR ÖZTUZCU, ALİ BAY, GÜLPER NACARKAHYA, MUSTAFA ULAŞLI, ELİF AKTEKİN, SİNAN AKBAYRAM, MURAT KORKMAZ, FÜSUN TUŞGÜL, AHMET ARSLAN
Journal of Clinical and Experimental Investigations - 2016;7(4):265-268
Introduction: Beta-thalassemia is the most common autosomal recessive disease. More than 200 different mutations determined in beta-globin gene. Beta thalassemia disease has a severe clinical picture. Treatment of the diseases should be maintained properly otherwise quality of life and life period can be affected. In this study, we tried to reveal inherited beta-thalassemia mutations in surrounding areas of Gaziantep. Material and Methods: In this study, we included 208 patients who applied with beta -thalassemia suspicion to the pediatric hematology clinic (age range 4-14). In that study, 138 patients with homozygous mutations and 70 patients’ heterozygous mutations were identified. HBB gene was sequenced by Sanger DNA Sequencing method. Results: Most common homozygote mutations are IVS I-110 G>A, IVS I-1 G>A, IVS II-1 G>A, the heterozygote mutations are IVS I-110 G>A, IVS II-1 G>A, codon 8 (AA) del. The incidence of IVS 1.110 (G>A) mutation is 24%, 28 in homozygote patients, 29.7% in heterozygote patients. The 8% homozygote patients and 19.7% heterozygote patients were effected with IVS 1.110 (G>A) mutation. Conclusion: The consanguinity marriages are very abundant particularly in our region due to fact that we are able to see many autosomal recessive diseased in our region. Reducing incidence of autosomal recessive disease by given genetic counseling could help the solution but it is still a major problem. J Clin Exp Invest 2016; 7(4): 265-268
