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Molecular characterization of β-thalassemia in Azerbaijan

✍ Scribed by M. Akif Cürük; Günes T. Yüregir; Chingis D. Asadov; Tamara Dadasova; Li-Hao Gu; Erol Baysal; Yuan-Chao Gu; M. Leticia S. Ribeiro; Titus H. J. Huisman

Publisher
Springer
Year
1992
Tongue
English
Weight
324 KB
Volume
90
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

✦ Synopsis

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.

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