NEGATIVE EPISTASIS BETWEEN α+ THALASSAEMIA AND SICKLE CELL TRAIT CAN EXPLAIN INTERPOPULATION VARIATION IN SOUTH ASIA

B. Penman,S. Habib,K. Kanchan,Sunetra Gupta,A. Read

Published 2011 in Evolution; international journal of organic evolution

ABSTRACT

Recent studies in Kenya and Ghana have shown that individuals who inherit two malaria‐protective genetic disorders of haemoglobin—α+ thalassaemia and sickle cell trait—experience a much lower level of malaria protection than those who inherit sickle cell trait alone. We have previously demonstrated that this can limit the frequency of α+ thalassaemia in a population in which sickle cell is present, which may account for the frequency of α+ thalassaemia in sub‐Saharan Africa not exceeding 50%. Here we consider the relationship between α+ thalassaemia and sickle cell in South Asian populations, and show that very high levels of α+ thalassaemia combined with varying levels of malaria selection can explain why sickle cell has penetrated certain South Asian populations but not others.

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