Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis
DF Wallace, RM Clark, HAJ Harley… - Journal of …, 2004 - Elsevier
We report the identification of a novel mutation in ferroportin1 in an Australian family with
autosomal dominant iron overload. The phenotype of iron overload in one member of this
family is associated with high serum ferritin concentration and elevated transferrin
saturation. The pattern of iron overload in the liver shows accumulation predominantly in
parenchymal cells with some Kupffer cell iron loading. Although some cases of type 4
haemochromatosis have been associated with the development of liver fibrosis this is the …
autosomal dominant iron overload. The phenotype of iron overload in one member of this
family is associated with high serum ferritin concentration and elevated transferrin
saturation. The pattern of iron overload in the liver shows accumulation predominantly in
parenchymal cells with some Kupffer cell iron loading. Although some cases of type 4
haemochromatosis have been associated with the development of liver fibrosis this is the …
