Molecular Characterization of α-Thalassemia in Adana, Turkey: A Single Center Study

Güvenç, Birol; Yıldız, Şule; Tekinturhan, Ferda; Dinçer, Sibel; Akyuzluer, Inci; Okten, Secaatin; Erkman, Hakan

doi:10.1159/000302203

Cited by 28 publications

(29 citation statements)

References 38 publications

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“…The frequency of this mutation has been reported to be as high as 70.8 % in a study of 17 HbH patients from Kuweit [27]. Other studies conducted in Turkey reported its frequency as less than 10 % [7,[11][12][13]. Even the frequency of α PA-2 α was higher than that of α PA-1 α mutation in two of these Turkish studies [11,12].…”

Section: Resultsmentioning

confidence: 84%

“…--MED mutation seems to be specific to Mediterranean areas. It has been reported among the first three or four most frequent mutations in Mediterranean and Middle Eastern populations whereas it has not to been seen in Far Eastern populations [7,16,17,19,20,24,26].…”

Section: Resultsmentioning

confidence: 97%

“…It has been reported that the frequencies of α-thalassemia and β-thalassemia carriers are as high as 7.5 and 13.5 %, respectively in Adana city-located in southern Turkey [7,8]. Aegean region, with a population of 9 million, is located in western Turkey.…”

Section: Introductionmentioning

confidence: 99%

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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: 84%

Section: Resultsmentioning

confidence: 97%

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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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“…This mutation was the second most commonly seen mutation in the studies by Curuk et al and Guvenc et al, whereas the third most commonly seen mutation in the study by Oner et al with allele frequencies of 9.55, 14.06 and 20 %, respectively [10][11][12]. In the study by Sutcu et al [13] it was reported as 27.77 %.…”

Section: Discussionmentioning

confidence: 95%

“…In a study on patients with alpha-thalassemia from Cukurova region by Curuk et al, it was shown that there was -a 3.7 mutation in 59.3 % of patients and allele frequency was 29.6 % [11]. Guvenc et al detected -a 3.7 deletion in 181 of 450 alleles from 225 patients with alpha-thalassemia and allele frequency was reported as 40.66 % [12]. In a study by Sutcu et al [13] in which distribution of alpha-thalassemia mutations was investigated at Isparta province, -a 3.7 allele frequency was 5.55 %.…”

Section: Discussionmentioning

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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Alpha‐globin gene triplication and its effect in beta‐thalassemia carrier, sickle cell trait, and healthy individual

Hamid

Keikhaei

Galehdari

et al. 2021

eJHaem

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The genotype and phenotype correlation between coinheritance of heterozygous beta‐thalassemia with the alpha‐globin triplication is unclear. In this study we have investigated and reviewed alpha triplication frequency in beta‐thalassemia carriers, sickle cell trait, and healthy individuals and its effect on hematological and phenotypical changes. In this study, 4005 beta‐thalassemia carriers, 455 sickle cell trait, and 2000 healthy individuals were included. Molecular characterization of beta and alpha‐thalassemia was performed. The frequencies of alpha‐globin triplication in beta‐thalassemia carriers, sickle cell trait, and healthy individuals were 67 (1.67%), 4 (0.88%), and 18 (0.9%), respectively. In total, the frequency of alpha‐triplications is approximately 89 (1.39%) in Khuzestan province, South of Iran population. We have compared the average hematological parameters of beta‐thalassemia carriers, sickle cell trait, and healthy individuals with and without alpha gene triplication. This mutation did not show any significant effect on the change of blood indices, neither in healthy individuals nor in sickle cell trait and beta‐thalassemia carriers. Therefore, there is no need to take more notice of anti 3.7 mutation in beta‐thalassemia carriers is opposed with some studies reported that the presence of excess alpha‐globin genes in beta‐thalassemia carriers can lead to the phenotype of beta‐thalassemia intermedia. Therefore, not every individual with triplicated alpha globin coinherited with beta‐thalassemia trait will have a significantly lower Hb than normal, and it is highly likely that none of them will need transfusion.

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Molecular Characterization of α-Thalassemia in Adana, Turkey: A Single Center Study

Cited by 28 publications

References 38 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

Alpha‐globin gene triplication and its effect in beta‐thalassemia carrier, sickle cell trait, and healthy individual

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