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. © 2004 Elsevier B.V. All rights reserved.