Abstract

Beta thalassemia is one of the most common autosomal single-gene disorders in the world. The prevalence of the disease is in the "thalassemia belt" which includes the Mediterranean region of Turkey; throughout the country the gene frequency is estimated to be 2.1%, but in certain regions, this figure increases to 10%. In this first study, we aimed to determine the frequency of β-thalassemia trait and distrubition of mutations in Kahramanmaraş province, which is located in the southern part of Turkey. In this study; 5 ml blood samples was taken from 14 thalassemic patients and their relatives who were taking care of Sutcu Imam University Hospital at Kahramanmaraş. Also, we collected blood samples from 245 adults for screening beta thalassemia trait. Haematological data were obtained by cell counter. HbA2 was determined by HPLC. Ten common mutations were screened by ARMS (Amplification Refractory Mutation System) method. These β-thalassemia mutations are -30 (T>A), Fsc8 (-AA), Fsc8/9 (+G), IVS1-1 (G>A), IVS1-5 (G>C), IVS1-6 (T>C), IVS1-110 (G>A ), Cd 39 ( C>T), IVS2-1 (G>A), IVS 2-745 (C>G). A rare mutation; Fsc44 (-C) was charecterized by DNA sequencing. Ten patients were detected as homozygous for IVS1-110 (seven cases), Fsc 44 (two cases) and IVS1-5 (only one case). Rest of the 4 patients were double heterozygous (two: IVS1-110/IVS1-6, one: Fsc8/Fsc8-9, one: IVS2-1/IVS1-5). In 245 adult, five β-thalassemia trait were detected by screening survey.Conclusion: Sixteen alleles were detected as IVS1-110 in 57.1%. It was seen the most common mutation in Kahramanmaraş. Seven different β-thalassemia mutations were found in this study. Each of 10 families have only one thalassemic patient, other two families have double thalassemic patient in total 12 family.

Highlights

  • Beta thalassemia is one of the most common autosomal single-gene disorders in the world

  • There were several population screenings for beta thalassemia trait there is no information on β-thalassemia mutations in Kahramanmaraş province. This is the first study in which we aimed to investigate the genetic heterogeneity of β-thalassemia mutations in the province of Kahramanmaraş in the southern part of Turkey

  • Five of 245 samples in Kahramanmaraş province were identified as having the β-thalassemia trait

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Summary

Introduction

Beta thalassemia is one of the most common autosomal single-gene disorders in the world. Aim: In this first study, we aimed to determine the frequency of β-thalassemia trait and distribution of mutations in Kahramanmaraş province located in the southern part of Turkey. We collected blood samples from 245 adults for screening beta thalassemia trait. Ten common mutations were screened by the amplification refractory mutation system (ARMS) method. These β-thalassemia mutations are: -30 (T>A), Fsc[8] (-AA), Fsc8/9 (+G), IVS1-1 (G>A), IVS1-5 (G>C), IVS1-6 (T>C), IVS1-110 (G>A ), Cd 39 (C>T), IVS2-1 (G>A), IVS 2-745 (C>G). Conclusions: Sixteen alleles were detected as IVS1-110 in 57.1% It was seen as the most common mutation in Kahramanmaraş. We found that the incidence of β-thalassemia trait was 2.04% in the province of Kahramanmaraş in southern Turkey

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