title: Comprehensive spectrum of the β-Thalassemia mutations in Khuzestan, southwest Iran.
abstract: β-Thalassemia (β-thal) is characterized by reduction or absence of β-globin gene expression. We describe the spectrum of mutations observed in a large cohort of β-thal carriers in Khuzestan, Southwest Iran. All together 1,241 blood samples from individuals with decreased mean corpuscular volume (MCV) and elevated Hb A(2) levels, were analyzed either by reverse dot-blot or by direct sequencing of the HBB gene. We found 42 different mutations associated with β-thal and identified eight common β-globin variants, namely, Hb S [β6(A3)Glu→Val], Hb C [β6(A3)Glu→Lys], Hb D-Punjab [β121(GH4)Glu→Gln] and Hb O-Arab [β121(GH4)Glu→Lys]. No mutations were found in two individuals. The distribution is characteristic of a heterogenous population with three preferential mutations being present [codons 36/37 (-T), IVS-II-1 (G>A) and IVS-I-110 (G>A)] at a frequency of 20.5, 20.0 and 14.2%, respectively, followed by 39 mutations in decreasing frequencies from 5.2 down to 0.1%. These data are of importance when planning prevention strategies in the country.
authors.affiliation: Gene Test Laboratory, Shafa Hospital, Ahwaz, Iran. galehdari187@yahoo.com
authors.forename: Hamid
authors.initials: H
authors.lastname: Galehdari
authors.forename: Bahaoddin
authors.initials: B
authors.lastname: Salehi
authors.forename: Somaiyeh
authors.initials: S
authors.lastname: Azmoun
authors.forename: Bijan
authors.initials: B
authors.lastname: Keikhaei
authors.forename: Khoda Morad
authors.initials: KM
authors.lastname: Zandian
authors.forename: Mohammad
authors.initials: M
authors.lastname: Pedram
mesh_terms: D004252:DNA Mutational Analysis; D017931:DNA Primers; D005787:Gene Frequency; D005838:Genotype; D005843:Geography; D006451:Hemoglobin, Sickle / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D007492:Iran; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D017931:DNA Primers; D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C026237:hemoglobin D Punjab; C032031:hemoglobin Arab