Spectrum of α-thalassemia mutations including first observation of - -FIL deletion in Hatay Province, Turkey

Çelik, Mine; Güneşaçar, Ramazan; Oktay, Gönül; Duran, Gülay Gülbol; Kaya, Hasan

doi:10.1016/j.bcmd.2013.01.012

Cited by 22 publications

(27 citation statements)

References 35 publications

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“…It was also found in 8 of 25 different genotypes ( Table 2). This mutation has been reported as the most common mutation in the other regions of Turkey as well [11][12][13]. In previous studies from Turkey, the highest allele frequency for −α 3.7 mutation detected by Çelik M et al [11] in Hatay Province, southern Turkey was to be 43.2 % (in 85 of 194 alleles).…”

Section: Resultsmentioning

confidence: 93%

“…This mutation has been reported as the most common mutation in the other regions of Turkey as well [11][12][13]. In previous studies from Turkey, the highest allele frequency for −α 3.7 mutation detected by Çelik M et al [11] in Hatay Province, southern Turkey was to be 43.2 % (in 85 of 194 alleles). Curuk al and Oner et al [12,13], in their studies, which included only HbH patients, found the allele frequency of −α 3.7 mutation to be 29.6 and 28 %, respectively.…”

Section: Resultsmentioning

confidence: 93%

“…But in another study by Celik et al, the second most common mutation was α -5nt del α mutation in Hatay Province in southern Turkey. Only one allele carried the −(α) 20.5 mutation among 85 alleles in their study [11]. In Guvenc et al's study, −(α) 20.5 mutation was the fourth most commonly seen mutation in 225 individuals carrying α-thalassemia allele or alleles [8].…”

Section: Resultsmentioning

confidence: 95%

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Molecular spectrum of α-globin gene mutations in the Aegean region of Turkey: first observation of three α-globin gene mutations in the Turkish population

et al. 2015

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Molecular test results of 231 individuals referred to our molecular genetics laboratory for analysis of α-globin gene mutations between the years 2007 and 2013 were evaluated. Analysis of α-thalassemia gene mutations was performed using reverse dot-blot hybridisation, which includes 21 common mutations. Twelve distinct α-thalassemia mutations and 23 different genotypes have been detected in the Aegean region of Turkey. The most frequent mutations were -α3.7 (52.28 %), -(α)20.5 (14.74 %), --MED (10.53 %), and αPA-1α (8.77 %). Three α-thalassemia mutations (αcd142α, --SEA, and αICα), which are more prevalent in Southeast Asia, are identified for the first time in Turkey in this study. We find that a broad spectrum of α-thalassemia mutations is present in the Aegean region of Turkey. The results obtained in this study may help inform decisions in the design and implementation of prevention strategies and diagnostic approaches.

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Section: Resultsmentioning

confidence: 93%

Section: Resultsmentioning

confidence: 93%

Section: Resultsmentioning

confidence: 95%

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Molecular spectrum of α-globin gene mutations in the Aegean region of Turkey: first observation of three α-globin gene mutations in the Turkish population

et al. 2015

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“…The thalassemias and abnormal hemoglobins constitute a group of the most common hereditary blood disorders in the world caused by quantitative or structural defects in hemoglobin synthesis [2,3]. In our country, a broad range of mutations have been observed, probably because of Turkey's location amongst three continents and the influence of different cultures over the course of history.…”

Section: Discussionmentioning

confidence: 99%

“…Adana is located in the southern part of Turkey and takes place in the eastern Mediterranean coast of the thalassemic belt. Alpha-thalassemia is a genetic defect extremely frequent worldwide, especially in Southeast Asian, Mediterranean, and Middle Eastern populations, and is characterized by the decrease or complete suppression of a-globin polypeptide chains, resulting from over 128 different deletions or point mutations of the alpha globin genes [2,3].…”

Section: Introductionmentioning

confidence: 99%

Alpha-Thalassemia Mutations in Adana Province, Southern Turkey: Genotype-Phenotype Correlation

Bozdoğan

Yüreğir

Büyükkurt

et al. 2014

Indian J Hematol Blood Transfus

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To look over the distribution of the mutations in a large series from Adana province, Southern Turkey, and determine the genotype-phenotype correlation of the frequent mutations. Among the 2500 individuals with mild or moderate anemia, microcytosis, and normal iron levels that were referred to our Genetic Diagnosis Center, a population consisting of 539 individuals were included in the study and tested for alpha-thalassemia mutations by using reverse dot blot hybridization technique. Twelve different mutations were detected in 539 patients. Among the 12 different mutations found, the most frequent mutations were the -a 3.7 (63.3 %), -MED (11.7 %), -20.5 (10.7 %), a2 IVS1(-5nt) (3.9 %), and a2 polyA-2 (3.5 %). The most frequent genotypes were -a 3.7 /aa (35.8 %), -a 3.7 /-a 3.7 (18.9 %), -20.5 /aa (11.5 %), and -MED /aa (10.4 %), respectively. There were statistically significant differences in hematological findings between -a 3.7 /-a 3.7 and -MED /aa, even though both have two mutated genes in the genotype. Our results show that alpha-thalassemia mutations are highly heterogeneous as well as deletional and -a 3.7 single gene deletion is particularly prevalent at Adana province in agreement to other studies from Turkey.

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Molecular spectrum of α-thalassemia mutations in Erbil province of Iraqi Kurdistan

Shamoon¹

2020

Mol Biol Rep

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Spectrum of α-thalassemia mutations including first observation of - -FIL deletion in Hatay Province, Turkey

Cited by 22 publications

References 35 publications

Molecular spectrum of α-globin gene mutations in the Aegean region of Turkey: first observation of three α-globin gene mutations in the Turkish population

Molecular spectrum of α-globin gene mutations in the Aegean region of Turkey: first observation of three α-globin gene mutations in the Turkish population

Alpha-Thalassemia Mutations in Adana Province, Southern Turkey: Genotype-Phenotype Correlation

Molecular spectrum of α-thalassemia mutations in Erbil province of Iraqi Kurdistan

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