Deletion of α-globin genes in haemoglobin-H disease demonstrates multiple α-globin structural loci (original) (raw)

Nature volume 255, pages 255–256 (1975)Cite this article

Abstract

FOUR clinical syndromes are associated with α thalassaemia: (1) the silent carrier state (α thalassaemia-2) with no clinical effect; (2) heterozygous α thalassaemia (α thalassaemia-1) in which a more severe defect in α-chain synthesis produces microcytic red cells but little or no anaemia; (3) haemoglobin-H disease usually the combination of α thalassaemia-1 and α thalassaemia-2 resulting in mild to moderate haemolytic anaemia and (4) hydrops fetalis associated with haemoglobin Barts an invariably fatal condition which represents the homozygous state of α thalassaemia-1 (for recent reviews see refs 1 and 2). To explain these syndromes one hypothesis proposes that α thalassaemia-1 and α thalassaemia-2 are caused by a defect of greater and lesser severity affecting alleles of a single α-globin locus3. A second hypothesis is based on evidence that the α-globin structural gene is duplicated4; the four syndromes may be the result of involvement of one, two, three or all four α structural genes by thalassaemia. In this study we tested these hypotheses by measuring the number of α-globin structural genes in haemoglobin-H disease and the results firmly support the latter hypothesis.

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Authors and Affiliations

  1. University of California, San Francisco, California, 94143
    Y. W. KAN, A. M. DOZY, H. E. VARMUS, J. M. TAYLOR, J. P. HOLLAND & L. E. LIE-INJO
  2. Institute for Medical Research, Kuala Lumpur
    J. GANESAN
  3. Department of Medicine, University of Hong Kong,
    D. TODD

Authors

  1. Y. W. KAN
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  2. A. M. DOZY
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  3. H. E. VARMUS
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  4. J. M. TAYLOR
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  5. J. P. HOLLAND
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  6. L. E. LIE-INJO
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  7. J. GANESAN
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  8. D. TODD
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KAN, Y., DOZY, A., VARMUS, H. et al. Deletion of α-globin genes in haemoglobin-H disease demonstrates multiple α-globin structural loci.Nature 255, 255–256 (1975). https://doi.org/10.1038/255255a0

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