Expanding the clinical and molecular spectrum of ferroportin disease

Abstract

Ferroportin disease is an autosomal dominant hepatic iron overload syndrome where two distinct clinical and biochemical phenotypes have been reported. Classical ferroportin disease is due to a loss of iron export function and characterized by low to normal transferrin saturation with macrophage iron storage. Non-classical ferroportin disease is due to a resistance of ferroportin to hepcidin mediated internalization and degradation of the protein. The aim of this study was to characterize the functional consequences of the ferroportin gene (SLC40A1) mutation p.Arg178Gln.