A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases.

Ferroportin-related iron overload disease differs from haemochromatosis in that it has a dominant mode of inheritance and is usually associated with macrophage iron sequestration. However, it is thought that mutations with opposite effects on protein functions, i.e.

Phenotypic and functional data confirm causality of the recently identified hemojuvelin p.r176c missense mutation.

In the present study, we correlate homozygosity for the very recently identified HJV p.R176C substitution with a juvenile hemochromatosis phenotype. We also show that the p.