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Effect of ferroportin Q248H polymorphism on iron status in African children
Ishmael Kasvosve1, Zvenyika A R Gomo, Kusum J Nathoo
1Department of Chemical Pathology, University of Zimbabwe College of Health Sciences, Harare, Zimbabwe. ikasvosve@medsch.uz.ac.zw
Insights
The ferroportin Q248H mutation may offer protection against iron deficiency in African children, particularly when inflammation is present. Further research is needed to confirm this finding in children with repeated inflammatory conditions.
Area of Science:
- Human Genetics
- Nutritional Science
- Pediatric Health
Background:
- Iron deficiency is prevalent in African children, with limited understanding of genetic factors influencing susceptibility.
- The ferroportin Q248H mutation, affecting cellular iron export, has been linked to higher iron stores in African adults.
Purpose of the Study:
- To determine the prevalence of iron deficiency in African children in a low-malaria transmission area.
- To investigate if the ferroportin Q248H mutation confers protection against iron deficiency in this population.
Main Methods:
- Blood counts and serum markers of iron status and inflammation were analyzed in 208 preschool children in Harare, Zimbabwe.
- Iron deficiency was defined using two criteria: serum ferritin and C-reactive protein (CRP), or ferritin and the transferrin receptor to ferritin ratio.
- Ferroportin Q248H genotype was assessed in all participants.
Main Results:
- The Q248H mutation was found in 38 heterozygotes and 2 homozygotes.
- Iron deficiency prevalence was 24.0% or 26.4% depending on the definition used.
- While the Q248H mutation showed a trend towards protection (OR 0.39, P=0.068), it was not statistically significant after adjustment.
- A significant interaction between Q248H and elevated CRP was observed, with heterozygotes showing higher ferritin levels when CRP was elevated.
Conclusions:
- The protective effect of ferroportin Q248H against iron deficiency might be more apparent in children experiencing recurrent inflammation.
- Further investigation into iron status and the ferroportin Q248H mutation in African children is warranted.
Background:
Iron deficiency is common in African children, but genetic variations affecting susceptibility have not been identified. The Q248H mutation in ferroportin, a cellular iron exporter regulated by iron status and inflammation, may be associated with high iron stores in African adults.
Objective:
The study examined the prevalence of iron deficiency in African children in an area where malaria transmission is low to absent and investigated whether ferroportin Q248H provides protection from iron deficiency.
Design:
Complete blood counts, serum markers of iron status and inflammation, and ferroportin Q247H were measured in 208 preschool children in Harare, Zimbabwe. Iron deficiency was defined by serum ferritin and C-reactive protein (CRP) concentrations (definition 1) or by ferritin and the ratio of transferrin receptor to log10 ferritin (definition 2).
Results:
Q248H was present in 40 children (38 heterozygotes, 2 homozygotes), elevated CRP was present in 26 (12.5%), and iron deficiency was present in 50 (24.0%) (definition 1) or 55 (26.4%) (definition 2). The interaction between ferroportin Q248H and CRP was significant for ferritin concentrations (P = 0.027) in a 2-factor analysis of variance model. With elevated CRP, the estimated geometric mean (SE range) ferritin concentration was 74 (52-106) microg/L for Q248H heterozygotes but 24 (20-30) microg/L for wild-type subjects (P = 0.016). With normal CRP, the ferritin concentration was 16 (14-19) microg/L whether or not the mutation was present. After adjustment for age and weight-for-height z score, the odds ratio (OR) for iron deficiency in Q248H heterozygotes was not significant according to definition 1 (OR: 0.53; 95% CI: 0.18, 1.40; P = 0.222) or definition 2 (OR: 0.39; 95% CI: 0.14, 1.07; P = 0.068).
Conclusions:
Any effect of Q248H in protecting against iron deficiency may be observable in children exposed to repeated inflammatory conditions. Further studies of iron status and ferroportin Q248H in African children are needed.
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