BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) is a metabolic enzyme 
involved in the pentose phosphate pathway, its especially important in red blood 
cell metabolism. Glucose-6-phosphate dehydrogenase deficiency is an X-linked 
recessive hereditary disease characterised by abnormally low levels of G6PD. 
About 400 million people worldwide have a deficiency of this enzyme. The 
remarkable geographic correlation of G6PD deficiency distribution with 
historical endemicity patterns of malaria has led to suggestions that the two 
could be linked. Some studies have concluded that G6PD deficiency confers 
resistance to malaria.
OBJECTIVE: To determine the prevalence of G6PD deficiency, and determine its 
relationship with prevalence and incidence of P. falciparum infection among 
children in Uganda.
METHODS: This was longitudinal study involving 245 children, 135 were actively 
followed up for 12 months. G6PD status was assessed for using PCR-RFLP method. A 
thick smear was done to determine presence of plasmodium trophozoites and 
parasite densities.
RESULTS: A total of 245 children between 6 months and 9 years were recruited. Of 
these 46.5% were males. Overall prevalence for the X-linked G6PD A- mutation 
was; 79.59% wild type, 12.65% heterozygous and 7.76% homozygous or hemizygous. 
Among the males 14% were hemizygous. At baseline, 40.8% had asymptomatic P 
falciparum infection. There was no statistically significant difference in 
prevalence and incidence rates of malaria infection among the different G6PD 
genotypes with prevalence among heterozygous, homozygous, and wild type being 
29%, 42.6% and 43% respectively (p = 0.11) and incidence among heterozygous and 
wild type being 0.56 and 0.52 episodes/year (p = 0.5). The heterozygous G6PD A- 
females had a lower parasite density compared to the wild type (2505 vs 941 
parasites/μL; P = 0.024).
CONCLUSIONS: This study showed that 20.41% of the population in this part of 
Uganda carry the G6PD A-mutation, within the range of 15-32% seen in other parts 
of Africa. P. falciparum infection incidence and prevalence rates are similar 
among the G6PD genotypes though, once infected, P. falciparum parasite densities 
are lowest among G6PD A- heterozygous females. This suggests differences in P. 
falciparum infection rates and severity of disease could be mediated by 
differences in parasite densities among the different G6PD genotypes.