Abstract
IN normal adults a small amount of foetal haemoglobin (HbF) is detectable in up to 8% of the red cells (F cells)1,2. In several inherited conditions, which include the Swiss3 and British4 types of hereditary persistence of foetal haemoglobin (HPFH), the proportion of F cells is increased in otherwise haematologically normal adults. It has been suggested (S. H. Boyer et al., unpublished) that these conditions should be referred to as heterocellular HPFH to distinguish them from the more well known types of HPFH in which HbF is distributed throughout all the red cells (pancellular HPFH). Here we present evidence that the interaction of a gene for heterocellular HPFH with that for either β thalassaemia (βthal) or sickle cell haemoglobin (HbS) results in the production of significantly greater amounts of HbF than is usually found in β thalassaemia or sickle cell anaemia alone. The increased output of HbF which results from this interaction reduces the clinical severity of these common disorders. It seems that the genetic determinant for heterocellular HPFH is linked to the γδβ-gene complex.
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WOOD, W., WEATHERALL, D. & CLEGG, J. Interaction of heterocellular hereditary persistence of foetal haemoglobin with β thalassaemia and sickle cell anaemia. Nature 264, 247–249 (1976). https://doi.org/10.1038/264247a0
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DOI: https://doi.org/10.1038/264247a0
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