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Alpha-thalassaemia and the malaria hypothesis.

A V Hill¹, J Flint, D J Weatherall

¹MRC Molecular Haematology Unit, Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, UK.

Acta Haematologica

|January 1, 1987

Summary

High frequencies of alpha-thalassaemia in Melanesia are likely due to natural selection favoring resistance to malaria. DNA analysis supports this genetic disorder

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Area of Science:

Population genetics
Human evolution
Medical genetics

Background:

Alpha-thalassaemia is a genetic blood disorder.
Melanesia has a high prevalence of alpha-thalassaemia.
Malaria is endemic in Melanesia.

Purpose of the Study:

To investigate the evolutionary pressures driving alpha-thalassaemia distribution in Melanesia.
To test the hypothesis of natural selection by malaria.

Main Methods:

Population genetic analysis
DNA analysis
Geographic distribution studies

Main Results:

DNA analysis revealed strong correlation between alpha-thalassaemia frequencies and malaria prevalence.
Genetic data support natural selection as the driving force.

Conclusions:

Natural selection due to malaria resistance is the most probable cause for high alpha-thalassaemia frequencies in Melanesia.
This finding has implications for understanding genetic adaptation in disease-endemic regions.

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