1 The population genetics of the haemoglobinopathies

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Common west African HLA antigens are associated with protection from severe malaria.

A V Hill, C E Allsopp, D Kwiatkowski … (1991)

A large case-control study of malaria in West African children shows that a human leucocyte class I antigen (HLA-Bw53) and an HLA class II haplotype (DRB1*1302-DQB1*0501), common in West Africans but rare in other racial groups, are independently associated with protection from severe malaria. In this population they account for as great a reduction in disease incidence as the sickle-cell haemoglobin variant. These data support the hypothesis that the extraordinary polymorphism of major histocompatibility complex genes has evolved primarily through natural selection by infectious pathogens.

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High frequencies of alpha-thalassaemia are the result of natural selection by malaria.

N J Flint, A V Hill, D K Bowden … (2015)

The frequency of alpha+-thalassaemia, but not other unlinked DNA polymorphisms, exhibits an altitude- and latitude-dependent correlation with malaria endemicity throughout Melanesia, supporting the hypothesis that protection against this parasitic disease is the major factor responsible for the high frequencies of haemoglobinopathies in many parts of the world.