title: alpha-thalassemia mutations in Khuzestan Province, Southwest Iran.
abstract: Although alpha-thalassemia (alpha-thal) is the most common hereditary hemoglobin (Hb) disorder in Iran, no comprehensive data are so far available on the prevalence of the disease in the province of Khuzestan in Southwest Iran. This study investigates the spectrum of alpha-thal mutations in this region. One hundred and twenty-one subjects from Khuzestan Province, Iran, were initially tested for the three most common Iranian alpha-thal mutations (- alpha3.7, -alpha4.2, and --MED) by gap-polymerase chain reaction (gap-PCR). Reverse hybridization test strips and DNA sequencing were used to identify additional alpha-globin mutations. A total of 131 mutated alpha-globin alleles were identified in these patients. Of the 13 mutations that were detected in Khuzestan Province, Iran, the - alpha3.7 single gene deletion was the most frequently identified variant, representing 62.6% of the total; we also observed significant numbers of individuals with compound heterozygous mutations. On the basis of our results, we strongly recommend screening for the most common mutations to improve the molecular diagnosis of anemia in this region.
authors.affiliation: Research Center of Thalassemia and Hemoglobinopathies, Jondishapour University of Medical Sciences, Ahwaz, Iran.
authors.forename: Khodamorad
authors.initials: K
authors.lastname: Zandian
authors.forename: Jamal
authors.initials: J
authors.lastname: Nateghi
authors.forename: Bijan
authors.initials: B
authors.lastname: Keikhaie
authors.forename: Mohammad
authors.initials: M
authors.lastname: Pedram
authors.forename: Nima
authors.initials: N
authors.lastname: Hafezi-Nejad
authors.forename: Valeh
authors.initials: V
authors.lastname: Hadavi
authors.forename: Christian
authors.initials: C
authors.lastname: Oberkanins
authors.forename: Azita
authors.initials: A
authors.lastname: Azarkeivan
authors.forename: Hai-Yang
authors.initials: HY
authors.lastname: Law
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
mesh_terms: D000483:Alleles; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007492:Iran / Q000453:epidemiology; D008297:Male; D009154:Mutation; D015995:Prevalence; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D055542:alpha-Globins