Negative epistasis between the malaria-protective effects of alpha+-thalassemia and the sickle cell trait

Nat Genet. 2005 Nov;37(11):1253-7. doi: 10.1038/ng1660. Epub 2005 Oct 16.

Abstract

The hemoglobinopathies, disorders of hemoglobin structure and production, protect against death from malaria. In sub-Saharan Africa, two such conditions occur at particularly high frequencies: presence of the structural variant hemoglobin S and alpha(+)-thalassemia, a condition characterized by reduced production of the normal alpha-globin component of hemoglobin. Individually, each is protective against severe Plasmodium falciparum malaria, but little is known about their malaria-protective effects when inherited in combination. We investigated this question by studying a population on the coast of Kenya and found that the protection afforded by each condition inherited alone was lost when the two conditions were inherited together, to such a degree that the incidence of both uncomplicated and severe P. falciparum malaria was close to baseline in children heterozygous with respect to the mutation underlying the hemoglobin S variant and homozygous with respect to the mutation underlying alpha(+)-thalassemia. Negative epistasis could explain the failure of alpha(+)-thalassemia to reach fixation in any population in sub-Saharan Africa.

Publication types

  • Randomized Controlled Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Africa South of the Sahara / epidemiology
  • Animals
  • Child
  • Cohort Studies
  • Hemoglobin, Sickle / genetics*
  • Heterozygote
  • Humans
  • Incidence
  • Kenya / epidemiology
  • Malaria, Falciparum / epidemiology
  • Malaria, Falciparum / genetics*
  • Malaria, Falciparum / prevention & control*
  • Plasmodium falciparum / growth & development*
  • Sickle Cell Trait / epidemiology
  • Sickle Cell Trait / genetics*
  • alpha-Thalassemia / epidemiology
  • alpha-Thalassemia / genetics*

Substances

  • Hemoglobin, Sickle