Prevalence of classic erythrocyte polymorphisms among 749 children in southern highland Rwanda

This is the authors' abstract. We don't add key points for this paper.

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.