title: Molecular characterization of beta-thalassemia in Azerbaijan.
abstract: We have analyzed the beta-thalassemia mutations in 99 chromosomes of 49 adults with beta-thalassemia major and of one with Hb S-beta-thalassemia, who are regular patients at a large hematology clinic in Bakü, Azerbaijan. A total of 20 different mutants were identified; three [frameshift at codon 8 (-AA); IVS-II-I (G-->A); IVS-I-110 (G-->A)] were present in about two-thirds of all chromosomes. Most alleles are the same as found in Mediterranean populations; a few have an Asian origin or come from Kurdistan, Lebanon, Saudi Arabia, or a black population. One mutant [frameshift at codons 82/83 (-G)] might be specific for the Azerbaijanian population. Nearly all patients were transfused, which made quantitation of Hb F impossible; high G gamma values were present in the Hb F of those patients whose beta-thalassemia chromosome carried the C-->T mutation at position -158 in the promoter of the G gamma-globin gene.
authors: Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
authors: M A
authors: MA
authors: Cürük
authors: G T
authors: GT
authors: Yüregir
authors: C D
authors: CD
authors: Asadov
authors: T
authors: T
authors: Dadasova
authors: L H
authors: LH
authors: Gu
authors: E
authors: E
authors: Baysal
authors: Y C
authors: YC
authors: Gu
authors: M L
authors: ML
authors: Ribeiro
authors: T H
authors: TH
authors: Huisman
mesh_terms: D000328:Adult; D000483:Alleles; D001382:Azerbaijan; D003062:Codon; D005787:Gene Frequency; D006239:Haplotypes; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D009154:Mutation; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D003062:Codon