title: Molecular spectrum of beta-thalassemia mutations in Northwestern Iran.
abstract: Beta-thalassemia (beta-thal) is a hereditary autosomal disorder with decreased or absent beta-globin chain synthesis. This study was designed to identify the common and rare beta-thal mutations in the Azerbaijan provinces, Northwestern Iran, and to set up a prenatal diagnostic laboratory. One hundred unrelated patients with known beta-thal major and intermedia, registered with the thalassemia clinics in the provincial capitals of Tabriz and Ardebil, were included. Mutations were studied in 200 chromosomes, by polymerase chain reaction-amplification refractory mutation system (PCR-ARMS) and direct sequencing methods. We found 17 beta-thal mutations in this region of Iran. The results showed that IVS-II-1 (-->GA) was the most frequent mutation, comprising 21% of all mutations. Other common mutations were IVS-I-110 (-->GA) 18%, frameshift codons (FSC) 8/9 (+G) 14.5%, FSC 8 (-AA) 8% and IVS-I-1 (GA) 7.5%. This is the first comprehensive study in this region and could be useful for developing a beta-thal molecular screening in Azerbaijan-Iran.
authors.affiliation: Department of Biology-Genetics, Science Faculty, Tabriz University, Tabriz, Iran.
authors.forename: Mohammad A
authors.initials: MA
authors.lastname: Hosseinpour Feizi
authors.forename: Abbas A
authors.initials: AA
authors.lastname: Hosseinpour Feizi
authors.forename: Nasser
authors.initials: N
authors.lastname: Pouladi
authors.forename: Mehdi
authors.initials: M
authors.lastname: Haghi
authors.forename: Parvin
authors.initials: P
authors.lastname: Azarfam
mesh_terms: D005260:Female; D006801:Humans; D007492:Iran / Q000453:epidemiology / Q000208:ethnology; D008297:Male; D008403:Mass Screening; D017720:Molecular Epidemiology / Q000379:methods; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*