Article
Variability of homozygous sickle cell disease: The role of alpha and beta globin chain variation and other factors.
Blood cells, molecules & diseases - 1 May 2018
Serjeant Graham R, Vichinsky Elliott
Abstract excerpt
The single base molecular substitution characterizing sickle cell haemoglobin, β6glu→val, might be expected to result in predictable haematological and clinical features. However, the disease manifests remarkable diversity believed to reflect the interaction with other genetic and environmental factors. Some of the genetic modifiers include the beta globin haplotypes, alpha thalassaemia, factors influencing the...
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