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Occurrence of Hæmoglobin H and Hæmoglobin Bart's in Alpha-thalassæmia: a Family with Two Possible Homozygous Cases and with G-6-PD-deficiency

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Abstract

IT has now generally been accepted that hæmoglobin H, which is a tetramer of normal β-chains, is found only in α-thalassæmia, where the deficiency of α-chains has led to a surplus of β-chains. The problem, however, why in only a small portion of cases of α-thalassæmia can Hb H be detected, has not been solved until now1. Fessas2 reports that at birth all patients with α-thalassæmia have 5 per cent or more Hb Bart's, which is a γ-chain tetramer, but that these patients afterwards develop Hb H only rarely. In family studies of patients with Hb H disease often one parent shows a thalassæmic blood picture, but no Hb H.

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Authors and Affiliations

  1. Hæmatological Department, Medical Clinic, State University, Utrecht

    P. W. HELLEMAN, K. PUNT & M. C. VERLOOP

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  1. P. W. HELLEMAN
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  2. K. PUNT
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  3. M. C. VERLOOP
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HELLEMAN, P., PUNT, K. & VERLOOP, M. Occurrence of Hæmoglobin H and Hæmoglobin Bart's in Alpha-thalassæmia: a Family with Two Possible Homozygous Cases and with G-6-PD-deficiency. Nature 201, 1039–1040 (1964). https://doi.org/10.1038/2011039b0

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