Repository of Research and Investigative Information

Repository of Research and Investigative Information

Ahvaz Jundishapur University of Medical Sciences

Evaluation of α-Globin Gene Mutations among Different Ethnic Groups in Khuzestan Province, Southwest Iran

Khosravi, A. and Jalali-Far, M. and Saki, N. and Hosseini, H. and Galehdari, H. and Kiani-Ghalesardi, O. and Paridar, M. and Azarkeivan, A. and Magaji-Hamid, K. (2016) Evaluation of α-Globin Gene Mutations among Different Ethnic Groups in Khuzestan Province, Southwest Iran. Hemoglobin, 40 (2). pp. 113-117. ISSN 03630269 (ISSN)

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α-Thalassemia (α-thal) is one of the most common inherited hemoglobin (Hb) disorders in the world. In addition to large deletions, over 50 different α-thal point mutations were detected around the world, thus, patients showed different phenotypes with regard to genotype. This study evaluated the genetic frequency of α-thal in Khuzestan Province, Southwest Iran, to help implement premarital and prenatal screening programs. The study was conducted on couples proposing to get married and parents who were referred to the genetic center of Shafa Hospital, Ahvaz, Iran, for prenatal diagnosis (PND) in 2012. Genomic DNA was purified by the salting-out method and tested using multiplex gap-polymerase chain reaction (gap-PCR), amplification refractory mutation system-PCR (ARMS-PCR), reverse hybridization test strips and DNA sequencing. Overall, 11 mutations were found on the α-globin genes. Based on gene frequency, the most common mutant allele was -α3.7 (rightward) (71.3) followed by the two gene deletion - -MED (9.7). Other common mutations were αcodon 19α (GCG>GC-, α2) (8.4), the polyadenylation (polyA1) site αpolyA1α (AATAAA>AATAAG) (2.8), and α-5 ntα (-TGAGG) (2.0). In addition, an extremely rare mutation at αcodon 21α Hb Fontainebleau, HBA2: c.64G > C (or HBA1) was also found. The results of this study are critical for correct diagnosis of α-thal carriers, premarriage counseling and PND. This study suggests that the distribution of mutations on the α-globin genes differs among the ethnic groups in Khuzestan Province as well as in other provinces. © 2016 Taylor & Francis.

Item Type: Article
Keywords: Iran Khuzestan α-Globin gene mutation α-thalassemia (α-thal) genomic DNA hemoglobin A hemoglobin A2 hemoglobin alpha chain alpha thalassemia Article blood examination DNA purification DNA sequence ethnic group female gene deletion gene frequency gene mutation genotype hemoglobin blood level human major clinical study male marital therapy mean corpuscular volume point mutation polyadenylation polymerase chain reaction prenatal diagnosis prenatal screening allele alpha-Thalassemia genetics mutation Alleles alpha-Globins Erythrocyte Indices Ethnic Groups Humans
Subjects: R Medicine > R Medicine (General)
Divisions: Faculty of Medicine, Health and Life Sciences
Depositing User: مهندس مهدی شریفی
Last Modified: 01 Jun 2018 11:32

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