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Gene deletion as the cause of α thalassaemia: Genetic lesion in homozygous α thalassaemia (hydrops fetalis)

Abstract

HOMOZYGOUS α thalassaemia (hydrops fetalis) is invariably fatal to afflicted infants within 30–40 weeks in utero or soon after birth1. In this form of α thalassaemia both the α chain of haemoglobin and the α-globin mRNA are undetectable2,3. To define the nature of this defect we have examined the DNA from two cases of hydrops to determine whether major alterations in the structural gene for α globin are present.

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TAYLOR, J., DOZY, A., KAN, Y. et al. Gene deletion as the cause of α thalassaemia: Genetic lesion in homozygous α thalassaemia (hydrops fetalis). Nature 251, 392–393 (1974). https://doi.org/10.1038/251392a0

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