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The molecular basis of HbH disease in Taiwan

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Summary

We have determined the molecular characteristics of α-thalassemia in 12 HbH subjects from Taiwan by restriction endonuclease mapping with α-and ζ-specific probes. We have found four types of defects in the α-thalassemia-2 genetic determinant: α3.7 type I; α4.2; αCS; and ααT. All HbH subjects carried the ——SEA genotype in the α-thalassemia-1 determinant. At least two different subtypes of ——SEA genotype were observed in this study.

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References

  • Chan V, Chan TK, Liang ST, Ghosh A, Kan YW, Todd D (1985) Hydrops fetalis due to an unusual form of HbH disease. Blood 66: 224–228

    Google Scholar 

  • Chan V, Chan TK, Cheng MY, Kan YW, Todd D, (1986) Organization of the ζ-α genes in Chinese. Br J Haematol 64: 97–105

    Google Scholar 

  • Clegg JB, Weatherall DJ, Milner PF (1971) Haemoglobin constant spring-a chain termination mutant? Nature 234: 337–340

    Google Scholar 

  • Embury SH, Lebo RV, Dozy AM, Kan YW (1979) Organization of the α-globin genes in the Chinese α-thalassemia syndromes. J Clin Invest 63: 1307–1310

    Google Scholar 

  • Embury SH, Miller JA, Dozy AM, Kan YM, Chan V, Todd D (1980) Two different molecular organizations account for the single α-globin gene of the α-thalassemia-2 genotype. J Clin Invest 66: 1319–1325

    Google Scholar 

  • Goossens M, Lee KY, Liebhaber SA, Kan YW (1982) Globin structural mutant α125Leu → Pro is a novel cause of α-thalassaemia. Nature 296: 864–865

    Google Scholar 

  • Hardison RC, Sawada I, Cheng JF, Shen JCK, Schmid CW (1986) A previously undetected pseudogene in the human alpha globin gene cluster. Nucleic Acids Res 14: 1903–1911

    Google Scholar 

  • Higgs DR, Old JM, Pressley L, Clegg JB, Weatherall DJ (1980) A novel α-globin gene arrangement in man. Nature 284: 632–635

    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 

  • Ko TM, Lee SC, Hsieh FJ, Lee TY, Lin JK (1986) Total deletion of α-globin genes in 2 cases of hemoglobin Bart's hydrops fetalis. J Formosan Med Assoc 85: 624–629

    Google Scholar 

  • Lauer J, Shen CKJ, Maniatis T (1980) The chromosomal arrangement of human α-like globin genes: sequence homology and α-globin gene deletions. Cell 20: 119–130

    Google Scholar 

  • Marks J, Shaw JP, Shen JCK (1986) Sequence organization and genomic complexity or primate θ1 globin gene, a novel α-globin-like gene. Nature 321: 785–788

    Google Scholar 

  • Mathew CGP, Rousseau J, Ress JS, Harley EH (1983) The molecular basis of alpha thalassemia in a south African population. Br J Haematol 55: 103–111

    Google Scholar 

  • Pressley L, Higgs DR, Clegg JB, Weatherall DJ (1980) Gene deletions in α thalassemia prove that the 5′ ζ locus is functional. Proc Natl Acad Sci USA 77: 3586–3589

    Google Scholar 

  • Proudfoot NJ, Maniatis T (1980) The structure of a human α-globin pseudogene and its relationship to α-globin gene duplication. Cell 21: 537–544

    Google Scholar 

  • Proudfoot NJ, Gil A, Maniatis T (1982) The structure of the human zeta-globin gene and a closely linked, nearly identical pseudogene. Cell 31: 553–563

    Google Scholar 

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

    Google Scholar 

  • Winichagoon P, Higgs DR, Goodbourn SEY, Clegg JB, Weatherall DJ, Wasi P (1984) The molecular basis of α-thalassemia in Thailand. EMBO J 3: 1813–1818

    Google Scholar 

  • Zeng YT, Huang SZ, (1985) α-Globin gene organisation and prenatal diagnosis of α-thalassemia in Chinese. Lancet I: 304–307

    Google Scholar 

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Peng, HW., Han, SH., Chow, TY. et al. The molecular basis of HbH disease in Taiwan. Hum Genet 78, 137–139 (1988). https://doi.org/10.1007/BF00278183

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  • DOI: https://doi.org/10.1007/BF00278183

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