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Thalassemia Reports
Volume 8
Issue 2
10.4081/thal.2018.7286
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Thalassemia Reports is published by MDPI from Volume 12 Issue 1 (2022). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Article

β Globin Mutations in Turkish, Northern Iraqi and Albanian Patients with β Thalassemia Major

by
Veysel Sabri Hancer
1,*,
Tunc Fisgin
2,
Murat Buyukdogan
1,
Ceyhun Bozkurt
3 and
Sotiraq Lako
4
1
Department of Medical Genetics, Faculty of Medicine, Istinye University, Istanbul, Turkey
2
Department of Child Health and Diseases, Faculty of Medicine, Bahcesehir University, Istanbul, Turkey
3
Department of Child Health and Diseases, Faculty of Medicine, Istinye University, Istanbul, Turkey
4
Hematology Clinic, American Hospital, Tirana, Albania
*
Author to whom correspondence should be addressed.
Thalass. Rep. 2018, 8(2), 7286; https://doi.org/10.4081/thal.2018.7286
Submission received: 9 January 2018 / Revised: 9 January 2018 / Accepted: 9 January 2018 / Published: 5 June 2018

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

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MDPI and ACS Style

Hancer, V.S.; Fisgin, T.; Buyukdogan, M.; Bozkurt, C.; Lako, S. β Globin Mutations in Turkish, Northern Iraqi and Albanian Patients with β Thalassemia Major. Thalass. Rep. 2018, 8, 7286. https://doi.org/10.4081/thal.2018.7286

AMA Style

Hancer VS, Fisgin T, Buyukdogan M, Bozkurt C, Lako S. β Globin Mutations in Turkish, Northern Iraqi and Albanian Patients with β Thalassemia Major. Thalassemia Reports. 2018; 8(2):7286. https://doi.org/10.4081/thal.2018.7286

Chicago/Turabian Style

Hancer, Veysel Sabri, Tunc Fisgin, Murat Buyukdogan, Ceyhun Bozkurt, and Sotiraq Lako. 2018. "β Globin Mutations in Turkish, Northern Iraqi and Albanian Patients with β Thalassemia Major" Thalassemia Reports 8, no. 2: 7286. https://doi.org/10.4081/thal.2018.7286

APA Style

Hancer, V. S., Fisgin, T., Buyukdogan, M., Bozkurt, C., & Lako, S. (2018). β Globin Mutations in Turkish, Northern Iraqi and Albanian Patients with β Thalassemia Major. Thalassemia Reports, 8(2), 7286. https://doi.org/10.4081/thal.2018.7286

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