Abstract

Iron deficiency anaemia is a major health problem affecting approximately 1.2 billion people worldwide. Young children, women of reproductive age and pregnant women living in sub-Saharan Africa are the most vulnerable. It is estimated that iron deficiency accounts for half of anaemia cases. Apart from nutritional deficiency, infection, inflammation and genetic factors are the major drivers of anaemia. However, the role of genetic risk factors has not been thoroughly investigated. This is particularly relevant in African populations, as they carry high genetic diversity and have a high prevalence of anaemia. Multiple genetic variations in iron regulatory genes have been linked to impaired iron status. Here we conducted a literature review to identify genetic variants associated with iron imbalance among global populations. We compare their allele frequencies and risk scores and we investigated population-specific selection among populations of varying geographic origin using data from the Keneba Biobank representing individuals in rural Gambia and the 1000 Genomes Project. We identified a significant lack of data on the genetic determinants of iron status in sub-Saharan Africa. Most of the studies on genetic determinants of iron status have been conducted in Europeans. Also, we identified population differences in allele frequencies in candidate putative genetic risk factors. Given the disproportionately high genetic diversity in African populations coupled with their high prevalence of iron deficiency, there is need to investigate the genetic influences of low iron status in Sub-Saharan Africa. The resulting insights may inform the future implementation of iron intervention strategies.

Highlights

  • Iron deficiency anaemia (IDA) is a major health problem affecting approximately 1.2 billion people worldwide [1]

  • In this study we identified a significant lack of data on the genetic influences of iron status in African populations

  • This finding highlights a critical gap since African populations have high genetic diversity, and information from other populations may not be transferable to Africans [76,77]

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Summary

Introduction

Iron deficiency anaemia (IDA) is a major health problem affecting approximately 1.2 billion people worldwide [1]. It was estimated to account for the 7th leading cause of disability worldwide in 2017 [2]. IDA is regarded as the dominant cause of anaemia, accounting for approximately 60% of the global anaemia burden [3]. 1) and the BBSRC UK (BB/R013063/1), https:// mrc.ukri.org https://bbsrc.ukri.org. The funders had no role in study design, data collection, analysis, decision to publish, or preparation of the manuscript

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