title: Evaluation of α-Globin Gene Mutations Among Different Ethnic Groups in Khuzestan Province, Southwest Iran.
abstract: 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 -α(3.7) (rightward) (71.3%) followed by the two gene deletion - -(MED) (9.7%). Other common mutations were α(codon 19)α (GCG>GC-, α2) (8.4%), the polyadenylation (polyA1) site α(polyA1)α (AATAAA>AATAAG) (2.8%), and α(-5 nt)α (-TGAGG) (2.0%). In addition, an extremely rare mutation at α(codon 21)α [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.
authors.affiliation: a Students' Scientific Research Center, Tehran University of Medical Sciences , Tehran , Iran.
authors.forename: Abbas
authors.initials: A
authors.lastname: Khosravi
authors.affiliation: b Health Research Institute, Research Center of Thalassemia & Hemoglobinopathy, Ahvaz Jundishapur University of Medical Sciences , Ahvaz , Iran.
authors.forename: Mohammadali
authors.initials: M
authors.lastname: Jalali-Far
authors.affiliation: b Health Research Institute, Research Center of Thalassemia & Hemoglobinopathy, Ahvaz Jundishapur University of Medical Sciences , Ahvaz , Iran.
authors.forename: Najmaldin
authors.initials: N
authors.lastname: Saki
authors.affiliation: b Health Research Institute, Research Center of Thalassemia & Hemoglobinopathy, Ahvaz Jundishapur University of Medical Sciences , Ahvaz , Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Hosseini
authors.affiliation: b Health Research Institute, Research Center of Thalassemia & Hemoglobinopathy, Ahvaz Jundishapur University of Medical Sciences , Ahvaz , Iran.
authors.forename: Hamid
authors.initials: H
authors.lastname: Galehdari
authors.affiliation: b Health Research Institute, Research Center of Thalassemia & Hemoglobinopathy, Ahvaz Jundishapur University of Medical Sciences , Ahvaz , Iran.
authors.forename: Omid
authors.initials: O
authors.lastname: Kiani-Ghalesardi
authors.affiliation: c Department of Laboratory Sciences , School of Paramedicine, Ahvaz Jundishapur University of Medical Sciences , Ahvaz , Iran.
authors.forename: Mostafa
authors.initials: M
authors.lastname: Paridar
authors.affiliation: d Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Thalassemia Clinic , Tehran , Iran.
authors.forename: Azita
authors.initials: A
authors.lastname: Azarkeivan
authors.affiliation: e Immunology Department , School of Public Health, Tehran University of Medical Sciences (TUMS-IC) , Tehran , Iran.|f Immunology Department , Faculty of Medical Laboratory Sciences, Usmanu Danfodiyo University , Sokoto , Nigeria.
authors.forename: Kabir
authors.initials: K
authors.lastname: Magaji-Hamid
mesh_terms: D000483:Alleles; D004909:Erythrocyte Indices; D005006:Ethnicity / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007492:Iran / Q000453:epidemiology; D009154:Mutation; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D055542:alpha-Globins
keywords: Iran; Khuzestan; α-Globin gene mutation; α-thalassemia (α-thal)