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Turkish Journal of Biochemistry

Türk Biyokimya Dergisi


IMPACT FACTOR 2018: 0.329

CiteScore 2018: 0.28

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Source Normalized Impact per Paper (SNIP) 2018: 0.169

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1303-829X
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Volume 41, Issue 6

Issues

The prevalence and genotypes of alpha-thalassemia in Adıyaman: two rare alpha variants

Adıyaman’da alfa-talasemi genotipleri ve sıklığı: İki nadir alfa variant

Ahmet Genç / Yusuf Sevgiler / Süleyman Bayram / Eyyüp Rencüzoğulları
Published Online: 2016-10-18 | DOI: https://doi.org/10.1515/tjb-2016-0149

Abstract

Introduction:

Alpha-thalassemia (α-thal) is one of the most common diseases in the world, and is more common in the Mediterranean countries, the Middle East, Southeast Asia, and Africa. The aim of this study was to determine the prevalence and genotypes of α-thal in high school students in Adıyaman province, Southeast Turkey.

Methods:

In this study, a total of 289 people were screened for α-thal mutations by multiplex gap-PCR and ARMS.

Results:

α-thal mutation frequency was determined to be 13.15%. Five different mutations were identified and the most common mutation was found to be −3.7 deletions with a frequency of 11.07%. We identified two heterozygous alpha hemoglobin variants. We described the second case of heterozygote Hb Fontainebleau of Turkish origin. Here, we also reported another heterozygote hemoglobin variant, Hb Q-Iran, previously reported in a few cases in another part of Turkey.

Discussion and conclusion:

This study covers the frequency of α-thal disease, and the molecular analysis is the first study in the Southeastern Anatolia Region of Turkey. The prevalence of the α-thal trait is low in Adıyaman Province, compared to the other cities of Turkey.

Özet

GİRİŞ ve AMAÇ:

Alfa talasemi başta Akdeniz, Ortadoğu, Güneydoğu Asya ve Afrika ülkelerinde olmak üzere, dünyada en yaygın görülen hastalıklardan biridir. Bu çalışmanın amacı ülkemizin güneydoğusunda yer alan Adıyaman ilinde okuyan lise öğrencilerinde alfa talasemi sıklığını ve genotiplerini belirlemektir.

YÖNTEM ve GEREÇLER:

Bu çalışmada, toplamda 289 kişinin alfa-talasemi mutasyonları multipleks gap-PCR ve ARMS yöntemi ile taranmıştır.

BULGULAR:

Alfa-talasemi mutasyon sıklığı %13,15 olarak belirlenmiştir. Beş farklı mutasyon tanımlanmış ve en yaygın mutasyon −3.7 delesyonu %11,07 sıklıkta bulunmuştur. Ayrıca iki alfa hemoglobin varyantı heterozigot olarak tanımlanmıştır. Bu çalışmada tanımlanan Hb Fontainebleau ülkemizdeki ikinci vakadır. Diğer Hb varyantı heterozigot Hb Q-Iran olarak rapor edilmiş olup, bu varyant ülkemizin değişik illerinde önceden rapor edilmiştir.

TARTIŞMA ve SONUÇ:

Ülkemiz Güneydoğu Anadolu Bölgesi’nde alfa-talasemi hastalığının sıklığını ve genotiplerinin belirlendiği ilk çalışma olmuştur. Alfa talasemi sıklığı ülkemizdeki diğer ilerle kıyaslandığında Adıyaman ilinde düşük bulunmuştur.

Keywords: Hb Fontainebleau; Hb Q-Iran; Adıyaman; Alpha thalassemia frequency; Genotypes

Anahtar Kelimeler:: Hb Fontainebleau; Hb Q-Iran; Adıyaman; Alfa talasemi sıklığı ve genotipleri

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About the article

Received: 2016-03-16

Accepted: 2016-04-25

Published Online: 2016-10-18

Published in Print: 2016-12-01


Citation Information: Turkish Journal of Biochemistry, Volume 41, Issue 6, Pages 467–472, ISSN (Online) 1303-829X, ISSN (Print) 0250-4685, DOI: https://doi.org/10.1515/tjb-2016-0149.

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