Association of <i>HFE</i> and <i>TMPRSS6</i> genetic variants with iron and erythrocyte parameters is only in part dependent on serum hepcidin concentrations

Abstract

The results suggest a mutual control of serum hepcidin and ferritin concentrations, a mechanism relevant to the pathophysiology of HFE haemochromatosis, and demonstrate that the HFE rs1800562 C282Y variant exerts a direct pleiotropic effect on the iron parameters, in part independent of hepcidin.