Genetic factors associated with iron storage in Australian blood donors

Blood donors are at risk of developing iron deficiency and/or iron deficiency anaemia. This may affect their health and affect their eligibility to give subsequent donations. Investigating genetic factors that may predispose donors to high or low iron stores is of interest; this may assist with providing optimal management strategies for maintaining donor health. This study aimed to investigate whether the presence of selected single nucleotide polymorphisms (SNPs) affecting parameters of iron status were associated with ferritin levels in Australian donors.

Samples (n=800) were collected from non-first-time blood donors in Queensland. Plasma ferritin levels were quantified and the genotypes for ten SNPs, identified by a review of relevant literature, were determined for each sample. Associations between SNPs and ferritin levels were investigated.

Three SNPs were associated with ferritin levels. In male donors, high ferritin levels were associated with the variant allele (G) of the SNP rs3923809 in the BTBD9 gene. An association with ferritin levels was also identified with the SNP rs235756 in the BMP2 gene in males. The SNP rs4820268 in the TMPRSS6 gene was associated with ferritin levels in females, with donors with the AG genotype being three times more likely to have low ferritin levels.

Variants in the genes TMPRSS, BTBD9 and BMP2 were associated with ferritin levels in Australian blood donors. These findings provide support that genetic testing may be useful for the generation of predictive algorithms that may allow for management strategies to be tailor-made for individual donors.