Abstract
We have analyzed the β-thalassemia mutations in 99 chromosomes of 49 adults with β-thalassemia major and of one with Hb S-β-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; highGγ values were present in the Hb F of those patients whose β-thalassemia chromosome carried the C → T mutation at position — 158 in the promoter of the Gγ-globin gene.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Baysal E (1992) The β and δ-thalassemia repository. Hemoglobin 16:237–258
Bissé E, Wieland H (1988) High-performance liquid Chromatographic Separation of human haemoglobins: simultaneous quantitation of foetal and glycated haemoglobin. J Chromatogr 434:95–110
Diaz-Chico JC, Yang KG, Stoming TA, Efremov DG, Kutlar A, Kutlar F, Aksoy M, Altay Ç, Gurgey A, Kilinç Y, Huisman THJ (1988) Mild and severe β-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes. Blood 78:248–251
Dimovski AJ, Öner C, Agarwal S, Gu Y-C, Gu L-H, Kutlar F, Lanclos KD, Huisman THJ (1991) Certain mutations observed in the 5′ sequences of the Gγ- and Aγ-globin genes of βS chromosomes are specific for chromosomes with major haplotypes. Acta Haematol 85:79–87
Gilman JG, Huisman THJ (1985) DNA sequence variation associated with elevated fetal Gγ globin production. Blood 66:783–787
Goetz PW, Kagitçbaşi C, Mango A, Tekeli I, Yalman N (eds) (1986) Ana britannica, vol 3 (in Turkish). Hurriyet Ofset, Istanbul
Gonzalez-Redondo JM, Stoming TA, Lanclos KD, Gu YC, Kutlar A, Kutlar F, Nakatsuji T, Deng B, Han IS, McKie VC, Huisman THJ (1988) Clinical and genetic heterogeneity in black patients with homozygous β-thalassemia from the Southeastern United States. Blood 72:1007–1014
Gonzalez-Redondo JM, Kattamis C, Huisman THJ (1989) Characterization of three types of β∘-thalassemia resulting from a partial deletion of the β-globin gene. Hemoglobin 13:377–392
Huisman THJ (1990) Frequencies of common β-thalassaemia alleles among different populations: variability in clinical severity. Br J Haematol 76:454–457
Huisman THJ, Jonxis JHP (1977) The hemoglobinopathies: techniques of identification. (Clinical and biochemical analysis, vol 6) Marcel Dekker, New York
Indrak K, Brabec V, Indrakova J, Chrobak L, Sakalova A, Jarosova M, Cermak J, Fei Y-J, Kutlar F, Gu Y-C, Baysal E, Huisman THJ (1992) Molecular characterization of β-thalassemia in Czechoslovakia. Hum Genet 88:399–404
Kattamis C, Hu H, Cheng G, Reese AL, Gonzalez-Redondo JM, Kutlar A, Kutlar F, Huisman THJ (1990) Molecular characterization of β-thalassaemia in 174 Greek patients with thalassaemia major. Br J Haematol 74:342–346
Kutlar F, Kutlar A, Huisman THJ (1986) Separation of normal and abnormal hemoglobin chains by reversed-phase high-performance liquid chromatography. J Chromatogr 357:147–153
Kutlar A, Kutlar F, Gu L-G, Mayson SM, Huisman THJ (1990) Fetal hemoglobin in normal adults and β-thalassemia hétérozygotes. Hum Genet 86:106–110
Lanclos KD, Öner C, Dimovski AJ, Gu Y-C, Huisman THJ (1991) Sequence variations in the 5′ flanking and IVS-II regions of the Gγ- and Aγ-globin genes of βS chromosomes with five different haplotypes. Blood 77:2488–2496
Öner C, Dimovski AJ, Altay Ç, Gürgey A, Gu YC, Huisman THJ, Lanclos KD (1992a) Sequence variations in the 5′ hypersensitive site-2 of the locus control region of βS chromosomes are associated with different levels of fetal globin in Hb S homozygotes. Blood 79:813–819
Öner C, Dimovski AJ, Olivieri NF, Schiliró G, Codrington JF, Fattoum S, Adekile AD, Öner R, Yüregir GT, Altay Ç, Gürgey A, Gupta RB, Jogessar VB, Kitundu MN, Loukopoulos D, Tamagnini GP, Ribeiro MLS, Kutlar F, Gu L-H, Lanclos KD, Huisman THJ (1992b) βS Haplotypes in various world populations. Hum Genet 89:99–104
Poncz M, Solowiejczyk D, Harpel B, Mory Y, Schwartz E, Surrey S (1982) Construction of human gene libraries from small amounts of peripheral blood: analysis of β-like globin genes. Hemoglobin 6:27–36
Righetti PG, Gianazza E, Bianchi-Bosisio A, Cossu G (1986) Conventional isoelectric focusing and immobilized pH gradients for hemoglobin separation and identification. In: Huisman THJ (eds) The hemoglobinopathies. (Methods in hematology, vol 15) Churchill Livingstone, Edinburgh, pp 47–70
Schwartz EI, Gol'tsov AA, Kaboev OK, Alexeev AA, Solovyev GYa, Surin VL, Lukianenko AV, Vinogradov SV, Berlin YuA (1989) A novel frameshift mutation causing β-thalassaemia in Azerbaijan. Nucleic Acids Res 17:3997
Shelton JB, Shelton JR, Schroeder WA (1984) High performance liquid Chromatographie separation of globin chains on a largepore C4 column. J Liq Chromatogr 7:1969–1977
Solovyev GYa, Gol'tsov AA, Surin VL, Lebedenko EN, Kaboev OK, Lukianenko AV, Alekseev AA, Plutalov OV, Dadasheva TS, Rustamov RSh, Berlin YuA, Schwartz EI (1990) Molecular nature of mutations causing β∘-thalassaemia in Azerbaijan. Biomed Sci 1:300–304
Turk ansiklopedisis (1966) Cilt 4 (in Turkish). Milli Eğitim Basimevi, Istanbul
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Cürük, M.A., Yüregir, G.T., Asadov, C.D. et al. Molecular characterization of β-thalassemia in Azerbaijan. Hum Genet 90, 417–419 (1992). https://doi.org/10.1007/BF00220470
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00220470