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β globin mutations in Turkish, Northern Iraqi and Albanian patients with β thalassemia major

Veysel Sabri Hancer, Tunc Fisgin, Murat Buyukdogan, Ceyhun Bozkurt, Sotiraq Lako
  • Veysel Sabri Hancer
    Department of Medical Genetics, Faculty of Medicine, Istinye University, Istanbul, Turkey | vshancer@yahoo.com
  • Tunc Fisgin
    Department of Child Health and Diseases, Faculty of Medicine, Bahcesehir University, Istanbul, Turkey
  • Murat Buyukdogan
    Department of Medical Genetics, Faculty of Medicine, Istinye University, Istanbul, Turkey
  • Ceyhun Bozkurt
    Department of Child Health and Diseases, Faculty of Medicine, Istinye University, Istanbul, Turkey
  • Sotiraq Lako
    Hematology Clinic, American Hospital, Tirana, Albania

Abstract

The mutation detection of β thalassemia is absolutely necessary for molecular diagnosis, as well as any genetic epidemiological study. The β globin gene has 3 exons and 2 introns, involved in β-thalassemic pathogenesis. The study aim of the study is to characterize the spectrum of β globin gene mutations in 136 Turkish, Northern Iraqi and Albanian pediatric β thalassemia major patients. After genomic DNA extraction from venous blood and amplification of the target DNA regions with PCR, genotyping was achieved by Sanger based DNA sequencing. The IVSI-110 G>A mutation was the most frequent allele in the Turkish and Albanian patients. In Northern Iraqi patients IVSI-1 G>A was is the most frequent. There are two mutations are firstly reported for Albania [c.*111 A>G 3’ UTR (rs63751128) and c.113 G>A (p.Trp38Ter, p.W38*) (rs35887507)] with this study. These findings may be of value for genetic counseling, premarital diagnosis, prenatal diagnosis and prevention programs.

Keywords

β globin mutations; thalassemia major; Turkey; Northern Iraq; Albania.

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Submitted: 2018-01-10 11:29:47
Published: 2018-06-06 14:22:59
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Copyright (c) 2018 Veysel Sabri Hancer, Tunc Fisgin, Murat Buyukdogan, Ceyhun Bozkurt, Sotiraq Lako

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