Novel mutation in ferroponin1 is associated with autosomal dominant hemochromatosis

Hemochromatosis is a common disorder characterized by excess iron absorption and accumulation of iron in tissues. Usually hemochromatosis is inherited in an autosomal recessive pattern and is caused by mutations in the HFE gene. Less common non-HFE-related forms of hemochromatosis have been reported and are caused by mutations in the transferrin receptor 2 gene and in a gene localized to chromosome 1q. Autosomal dominant forms of hemochromatosis have also been described. Recently, 2 mutations in the ferroportin 1 gene, which encodes the iron transport protein ferroportin 1, have been implicated in families with autosomal dominant hemochromatosis from the Netherlands and Italy. We report the finding of a novel mutation (V162del) In ferroportin 1 In an Australian family with autosomal dominant hemochromatosis. We propose that this mutation disrupts the function of the ferroportin 1 protein, leading to impaired iron homeostasis and iron overload.