Deletion of the beta-globin structure gene in hereditary persistence of foetal haemoglobin.

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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.