title: A comprehensive molecular characterization of beta thalassemia in a highly heterogeneous population.
abstract: In Iran, the prevalence of beta-thalassemia trait is approximately 4-8% in most areas, and in Mazandaran province 10% of the population are carriers. Twenty four beta-globin gene mutations were identified in 1635 persons with beta-thalassemia trait using reverse dot blot and restriction fragment length polymorphism analysis. The predominant mutations included IVSII-1 (G-A) (61%), codon 30 (G-C) (7.5%), codon 22 (-7bp) (6.2%), codon 8 (-AA) (5.4%) and IVSI-5 (G-C) (3.6%). These mutations were in different haplotypes, with IVSII-1 being the most heterogeneous. Other less frequent mutations included IVS-II-745 (C-G), codon 44 (-C), codon 39 (C-T), codon 5 (-CT), IVS I-110 (G-A), IVSI-130 (G-C), Fr8/9 (+G), IVSI-1 (G-A), and IVSI (-25bp). All rare mutations except IVSI-130 were encountered in a unique haplotype. The diversity of these mutations reflects the historical admixture of genes in the region. The high prevalence of IVSII-1 (G-A) compared to other parts of the country and the world suggests a founder effect. Our data provide a basis for genetic counseling and prenatal diagnosis.
authors.affiliation: Cellular and Molecular Biology Research Center, Babol University of Medical Sciences, Babol, Iran. halehakhavan@yahoo.com
authors.forename: Haleh
authors.initials: H
authors.lastname: Akhavan-Niaki
authors.forename: Poupak
authors.initials: P
authors.lastname: Derakhshandeh-Peykar
authors.forename: Ali
authors.initials: A
authors.lastname: Banihashemi
authors.forename: Amrollah
authors.initials: A
authors.lastname: Mostafazadeh
authors.forename: Beheshteh
authors.initials: B
authors.lastname: Asghari
authors.forename: Mohammad-Reza
authors.initials: MR
authors.lastname: Ahmadifard
authors.forename: Mandana
authors.initials: M
authors.lastname: Azizi
authors.forename: Ali
authors.initials: A
authors.lastname: Youssefi
authors.forename: Maryam Mitra
authors.initials: MM
authors.lastname: Elmi
mesh_terms: D005260:Female; D023061:Gene Order; D018740:Genetic Heterogeneity; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D007492:Iran; D009154:Mutation / Q000235:genetics; D015995:Prevalence; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D055544:beta-Globins