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Recent insights into the population genetics and dynamics of the inherited disorders of hemoglobin

D J Weatherall1

  • 1Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK.

Mediterranean Journal of Hematology and Infectious Diseases
|March 19, 2011
PubMed

The inherited disorders of hemoglobin are by far the commonest monogenic diseases and there is considerable evidence that they have reached their very high frequencies due to heterozygote advantage against malaria. Recent studies have begun to clarify the effect of interactions between malaria and some of the more severe inherited hemoglobin disorders and demonstrated how complex epistatic interactions between different hemoglobin variants with respect to malaria resistance and modification of their phenotypic severity may explain the remarkable heterogeneity of distribution and the frequency of these conditions both between and within individual populations.

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