Haemochromatosis

Abstract

Since the discovery of the haemochromatosis gene (HFE; chromosome 6p21.3) associated with haemochromatosis in 1996, many studies about diverse aspects of this common genetic disorder have been done. Some patients present with cirrhosis and show high mortality, whereas many asymptomatic homozygotes for the C282Y mutation in the haemochromatosis gene identified in population screening studies, who have been followed up for many years, do not develop iron overload. Studies described the usefulness of transferrin saturation and serum ferritin tests, and the acceptability of genetic testing for haemochromatosis. Phlebotomy therapy improves hepatic fibrosis. Here, we summarise some new findings in haemochromatosis, a disorder first described in 1865.