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Prevalence and molecular heterogeneity of alfa+thalassemia in two tribal populations from Andhra Pradesh, India

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Summary

We describe here the screening of a small group of apparently healthy individuals belonging to the tribal communities of Koya Dora and Konda Reddi. A remarkably high incidence of deletion and nondeletion α+ thalassemia mutants has been found with allele frequencies and distributions characteristic to each tribe. We have confirmed the strict relationship between Hb S levels and the number of α globin genes in double heterozygotes for the S gene and α thalassemia. In this population sample we did not find either heterozygous carriers of α0 thalassemia (deletion of both alpha genes in “cis”) or individuals showing hemolytic anemia due to inactivation of three α-globin genes (Hb H disease). Selection by malaria is most probably responsible for the prevalence of the various α+ thalassemia haplotypes among the two tribal populations of Andhra Pradesh.

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References

  • Brittenham G, Lozoff B, Harris JW, Mayson SM, Miller A, Huisman THJ (1979) Sickle cell anemia and trait in southern India: further studies. Am J Hematol 6:107

    Google Scholar 

  • Brittenham G, Lozoff B, Harris JW, Kan YW, Dozy AM, Nayudu NVS (1980) Alpha globin gene number: population and restriction endonuclease studies. Blood 55:706–708

    Google Scholar 

  • De Jong WW, Meera Khan P, Bernini LF (1975) Hemoglobin Koya Dora: high frequency of a chain termination mutant. Am J Hum Genet 27:81–90

    Google Scholar 

  • Flint J, Hill AVS, Bowden DK, Oppenheimer SJ, Sill PR, Serjeantson SW, Bana-Koiri J, Bathia K, Alpers MP, Boyce AJ, Weatherall DJ, Clegg JB (1986) High frequencies of α-thalassemia are the result of natural selection of malaria. Nature 321:744–750

    Google Scholar 

  • Harano K, Harano T, Kutlar F, Huisman THJ (1985) Gamma-globin triplication and quadruplication in Japanese newborns. FEBS Lett 190:45–49

    Google Scholar 

  • Higgs DR, Weatherall DJ (1983) Alpha thalassemia. Curr Top Hematol 4:37–97

    Google Scholar 

  • Higgs DR, Aldridge BE, Lamb J, Clegg JB, Weatherall DJ, Hayes RJ, Grandison Y, Lowrie Y, Mason KP, Serjeant BE, Serjeant GR (1982) The interaction of alpha thalassemia and homozygous sickle cell disease. N Engl J Med 306:1441–1446

    Google Scholar 

  • Higgs DR, Hill AVS, Bowden DK, Weatherall DJ, Clegg JB (1984) Independent recombination events between the duplicated human α globin genes; implications for their concerted evolution. Nucleic Acids Res 12:6965–6977

    Google Scholar 

  • Hundrieser J, Deka R, Gogoi BC (1987) α-Thalassemia in the Kachari population of Assam (India). Hemoglobin 11:517–519

    Google Scholar 

  • Liebhaber SA, Cash FE, Ballas SK (1986) Human α-globin expression. The dominant role of the α2 locus in mRNA and protein synthesis. J Biol Chem 261:15327–15333

    Google Scholar 

  • Maeda N, McEvoy SM, Harris HF, Huisman THJ, Smithies O (1986) Polymorphisms in the human haptoglobin gene cluster: chromosomes with multiple haptoglobin-related (Hpr) genes. Proc Natl Acad Sci USA 83:7395–7399

    Google Scholar 

  • Maniatis T, Fritsch EF, Sambrook J (eds) (1982) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY

    Google Scholar 

  • Saha N, Banerjee B (1973) Haemoglobinopathies in the Indian subcontinent. Acta Genet Med Gemellol (Roma) 22:117

    Google Scholar 

  • Shaeffer JR, Kingston RE, McDonald MJ, Bunn HF (1978) Competition of normal β chains and sickle hemoglobin β chains for α chains as a post translational control mechanism. Nature 276:631–632

    Google Scholar 

  • Smithies O (1965) Characterization of genetic variants of blood proteins. Vox Sang 10:359–362

    Google Scholar 

  • Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98:503–517

    Google Scholar 

  • Sukumaran PK (1983) Gamma thalassemia resulting from the deletion of a γ-globin gene. Nucleic Acids Res 11:4635–4643

    Google Scholar 

  • Trent RJ, Mickleson KNP, Wilkinson T, Yakas J, Dixon MW, Hill PJ, Kronenberg H (1986) Globin genes in Polynesians have many rearrangements including a recently described γγγγ/. Am J Hum Genet 39:350–360

    Google Scholar 

  • Weatherall DJ, Clegg JB (1981) The thalassemia syndromes, 3rd edn. Blackwell, Oxford London

    Google Scholar 

  • Weening RS, Roos D, Loos JA (1974) Oxygen consumption of phagocytising cells in human leucocyte and granulocyte preparations: a comparative study. J Lab Clin Med 83:570–576

    Google Scholar 

  • Yenchitsomanus PT, Summers KM, Bhatia KK, Cattani J, Board PG (1985) Extremely high frequencies of α-globin deletion in Madang and on Kar Kar island, Papua New Guinea. Am J Hum Genet 37:778–784

    Google Scholar 

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Fodde, R., Losekoot, M., van den Broek, M.H. et al. Prevalence and molecular heterogeneity of alfa+thalassemia in two tribal populations from Andhra Pradesh, India. Hum Genet 80, 157–160 (1988). https://doi.org/10.1007/BF00702860

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  • DOI: https://doi.org/10.1007/BF00702860

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