Abstract
HEREDITARY persistence of foetal haemoglobin (HPFH) is a condition characterised by the persistence of a high percentage of foetal haemoglobin into adulthood1. The homozygous state has been described in the Negro2–4 and the Indian5; only haemoglobin F is present, and haemoglobins A and A2 are absent. It has been suggested that in this syndrome γ-chain synthesis fails to switch to β-chain synthesis after birth. The reason for this failure is unknown, although deletions of the β- and δ-structural genes have been proposed6. We report here analysis of the DNA from a patient with the homozygous form of HPFH, using radioactive DNAs complementary to β- and γ-globin mRNA (β and γcDNAs); the results are compatible with deletion of the β-globin structural locus.
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References
Edington, G. M., and Lehmann, H., Br. Med. J., 1, 1308–1311 (1955); ibid., 2, 1328–1330 (1955).
Wheeler, J. T., and Krevans, J. R., Bull. Johns Hopkins Hosp., 109, 217–233 (1961).
Ringelhann, B., Konotey-Ahulu, F. I. D., Lehmann, H., and Lorkin, P. A., Acta Haemat., 43, 100–110 (1970).
Siegel, W., et al., Ann. int. Med., 72, 533–536 (1970).
Sukumaran, P. K., et al., Br. J. Haemat., 23, 403–417 (1972).
Herman, E. C., Jr, and Conley, C. L., Am. J. Med., 29, 9–17 (1960).
Taylor, J. M., et al., Nature, 251, 392–393 (1974).
Rucknagel, D. L., and Winter, W. P., Ann. N.Y. Acad. Sci., 241, 80–92 (1974).
Huisman, T. H. J., et al., New Engl. J. Med., 285, 711–715 (1971).
Ottolenghi, S., et al., Proc. natn. Acad. Sci. U.S.A., 72, 2294–2299 (1975).
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KAN, Y., HOLLAND, J., DOZY, A. et al. Deletion of the β-globin structure gene in hereditary persistence of foetal haemoglobin. Nature 258, 162–163 (1975). https://doi.org/10.1038/258162a0
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DOI: https://doi.org/10.1038/258162a0
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