title: α-Thalassemia mutations in two provinces of Southern Iran: Fars & Kohkeloye and Bouyer Ahmad.
abstract: The major defect in α-thalassemia (α-thal) is a single or double gene deletion. The aim of this study was to evaluate the α-thal mutations in two provinces of Southern Iran, Fars & Kohkeloye and Bouyer Ahmad. A total of 2000 subjects with microcytic hypochromic anemia was selected as a study group; finally, 1177 subjects were found to be α-thal mutation carriers by gap-polymerase chain reaction (gap-PCR) protocols and were confirmed by multiplex PCR and reverse hybridization test strips. A total of 1195 mutated α-globin alleles was identified in these patients that includes at least 10 different gene mutations. The most common mutation found was -α(3.7) (rightward deletion) (71.7%) and α(-5 nt) (IVS-I, -TGAGG) and the polyadenylation signal site (poly A1; AATAAA>AATAAG) were the second and third most common mutations (7.0 and 4.2%, respectively). In countries like Iran, with a high prevalence of thalassemia, identifying different mutations is helpful in carrier screening, genetic counseling and prenatal diagnosis of at-risk couples for the prevention of the birth of babies affected by severe thalassemic anomalies.
authors.affiliation: Department of Non Communicable Diseases, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: Faramarzi
authors.initials: F
authors.lastname: Hossein
authors.forename: Rastegar
authors.initials: R
authors.lastname: Mohsen
authors.forename: Moghadami
authors.initials: M
authors.lastname: Mohsen
authors.forename: Mohammad
authors.initials: M
authors.lastname: Taheri
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D000747:Anemia, Hypochromic / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005817:Genetic Counseling; D006801:Humans; D007492:Iran / Q000453:epidemiology; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D009154:Mutation; D011291:Premarital Examinations; D015995:Prevalence; D017384:Sequence Deletion; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000150:complications / Q000453:epidemiology / Q000235:genetics*
chemical_list: D055542:alpha-Globins