Classic erythrocyte polymorphisms were assessed by PCR-based methods among 749 children in southern highland Rwanda. Sickle cell trait, glucose-6-phosphate dehydrogenase (G6PD) deficiency, and α(+)-thalassaemia were observed in 2.8%, 9.6%, and 15.1%, respectively. Malariologic parameters did not correlate with these traits. Haemoglobin concentrations were significantly reduced in α(+)-thalassaemia but only homozygosity (0.8%) was a rare cause of anaemia in this population. The frequencies of malaria-protective polymorphisms reflect the high altitude (1700-1800 metres) of the study area. α(+)-thalassaemia and G6PD deficiency have previously been underestimated in Rwanda which may be of importance in the diagnosis and treatment of common childhood diseases.
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