A New Variant of Sickle‐Cell Disease with High Levels of Foetal Haemoglobin Homogeneously Distributed within Red Cells

Summary. The clinical, biochemical, biosynthetic and genetic properties are described of an unusual variant of sickle‐cell disease occurring in two adult Negro siblings who have resided above 2000 m all their lives. The variant consists of homozygous S disease with elevated levels of Hb‐F homogeneously distributed throughout the red cells. Both parents have Hb‐A and Hb‐S; neither has evidence of thalassaemia nor the gene for hereditary persistence of foetal haemoglobin (HPFH). As these findings cannot be explained by environmental factors or known genetic defects, we postulate the existence of a new F‐gene.

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