Investigation of Distribution of Beta -Thalassemia Hereditary Mutations in Gaziantep and the Surrounding Areas

Year 2016, , 265 - 268, 01.12.2016

Serdar Öztuzcu Ali Bay Gülper Nacarkahya Mustafa Ulaşlı Elif Aktekin Sinan Akbayram Murat Korkmaz Füsun Taşgül Ahmet Arslan

https://doi.org/10.5799/jcei.328520

Abstract

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 

Keywords

Beta Thalassemia, Beta-globin, HBB

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