Abstract

Background Ferroportin disease is caused by heterozygous mutations in SLC40A1, characterized by high serum ferritin and hepatic iron overload. Prognosis and management of patients with SLC40A1 mutations has been inferred from HFE associated hemochromatosis, despite different phenotypic presentation in patients with ferroportin disease. The aim of the present study was to define the clinical and biochemical characteristics and management of patients with SLC40A1 mutations.