Epistatic interactions between genetic disorders of hemoglobin can explain why the sickle-cell gene is uncommon in the Mediterranean

Proc Natl Acad Sci U S A. 2009 Dec 15;106(50):21242-6. doi: 10.1073/pnas.0910840106. Epub 2009 Dec 1.

Abstract

Several human genetic disorders of hemoglobin have risen in frequency because of the protection they offer against death from malaria, sickle-cell anemia being a canonical example. Here we address the issue of why this highly protective mutant, present at high frequencies in subSaharan Africa, is uncommon in Mediterranean populations that instead harbor a diverse range of thalassemic hemoglobin disorders. We demonstrate that these contrasting profiles of malaria-protective alleles can arise and be stably maintained by two well-documented phenomena: an alleviation of the clinical severity of alpha- and beta-thalassemia in compound thalassemic genotypes and a cancellation of malaria protection when alpha-thalassemia and the sickle-cell trait are coinherited. The complex distribution of globin mutants across Africa and the Mediterranean can therefore be explained by their specific intracellular interactions.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Africa
  • Anemia, Sickle Cell / genetics*
  • Epistasis, Genetic*
  • Gene Frequency
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Malaria / genetics
  • Mediterranean Islands
  • Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal