Soluble transferrin receptor and mutations in hemochromatosis and transferrin genes in a general Catalan population

Abstract Background The measurement of soluble transferrin receptor (sTfR) has been proposed as a valuable marker of erythropoietic activity and iron status. However, the possibility that mutations in HFE and/or transferrin genes have a direct effect on this parameter has not been sufficiently investigated. The present report addresses this point in the general population. Methods Serum sTfR, ferritin, iron and transferrin, as well as the H63D and the C282Y polymorphisms of the HFE gene and the TF C1/C2 polymorphism of the transferrin gene, were analysed in 348 subjects. Results We observed significant and independent associations of serum sTfR with sex (2.68±1.27 mg/L in men vs. 2.25±1.33 in women; P =0.002), H63D polymorphism (2.61±1.34 in wild type homozygotes vs. 2.28±1.25 in carriers of one or two mutated alleles; P =0.009), and serum iron concentration ( r =−0.17; P =0.002). Conclusion The H63D mutation of the HFE gene has a moderate but significant influence on sTfR concentration in the general population, the presence of one or two mutated alleles being associated with an average of 0.27 mg/L less sTfR than nonmutated homozygotes.