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 ferroportin1 gene, which encodes the 
iron transport protein ferroportin1, have been implicated in families with 
autosomal dominant hemochromatosis from the Netherlands and Italy. We report the 
finding of a novel mutation (V162del) in ferroportin1 in an Australian family 
with autosomal dominant hemochromatosis. We propose that this mutation disrupts 
the function of the ferroportin1 protein, leading to impaired iron homeostasis 
and iron overload.