Molecular characterization of ß-thalassemia in Azerbaijan

PubMedID: 1483699We have analyzed the ß-thalassemia mutations in 99 chromosomes of 49 adults with ß-thalassemia major and of one with Hb S-ß-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; highG? values were present in the Hb F of those patients whose ß-thalassemia chromosome carried the C › T mutation at position - 158 in the promoter of the G?-globin gene. © 1992 Springer-Verlag