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A new type of hereditary persistence of foetal haemoglobin: is a diffusible factor regulating γ-chain synthesis?

Abstract

PERSISTENCE of foetal haemoglobin synthesis into adult life produces a condition known as hereditary persistence of foetal haemoglobin (HPFH). Different types of HPFH have been described1 but the precise molecular mechanism(s) responsible for them has not been clarified. Several genetic hypotheses have been proposed, of which the most widely accepted is that of a deletion in the δβ complex; this would agree with the fact that both the gene(s) for HPFH (so far described) and the β-structural locus behave as alleles. We have studied a new type of HPFH in a negro family, the gene for which does not behave as an allele of the δβ complex, and have therefore proposed a genetic interpretation for this condition.

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MARTINEZ, G., COLOMBO, B. A new type of hereditary persistence of foetal haemoglobin: is a diffusible factor regulating γ-chain synthesis?. Nature 252, 735–736 (1974). https://doi.org/10.1038/252735a0

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