TMPRSS6 gene polymorphisms associated with iron deficiency anaemia among global population

Abstract Iron deficiency anaemia (IDA) has been recognised as a common global health problem that affects more than 1.2 billion people worldwide, particularly in high-risk individuals such as young children, pre-menopausal women, and pregnant women. In most cases, IDA arises due to the prolonged effect of iron deficiency (ID). On the other hand, it has been estimated that iron deficiency without anaemia is more frequent nowadays. Apart from the lack of nutrients, infections and inflammatory diseases, genetic factors can also be another factor that drives iron instability in the blood, leading to IDA. Previous studies, including genome-wide association studies, have identified multiple transmembrane protease serine 6 (TMPRSS6) genetic variants associated with different iron parameters, especially variants contributing to an increase in hepcidin level, low blood, and iron status. Despite multiple studies on TMPRSS6 gene polymorphisms, fewer studies are reported among the Asian population. Thus, further association studies of TMPRSS6 genetic polymorphisms between ID and IDA are warranted among the Asian population. This review provides a comprehensive summary of the causative TMPRSS6 genetic variants and their roles associated with iron deficiency among the global population.