Primary iron overload with inappropriate hepcidin expression in V162del ferroportin disease
Heinz Zoller, Ian McFarlane, Igor Theurl, Sylvia Stadlmann, Elizabeta Nemeth, David Oxley, Tomas Ganz, David J. Halsall, Timothy M. Cox, Wolfgang Vogel – 28 June 2005 – Ferroportin disease (hemochromatosis type 4) is a recently recognized disorder of human iron metabolism, characterized by iron deposition in macrophages, including Kupffer cells. Mutations in the gene encoding ferroportin 1, a cellular iron exporter, are responsible for this iron storage disease, inherited as an autosomal dominant trait.