Hemochromatosis is one of the most frequent
genetic diseases among the white populations, affecting one in three hundred persons. Its diagnosis has been radically transformed by the discovery of the HFE gene. In a given individual, the diagnosis can, from now on, be ascertained on the sole association of a plasma
transferrin saturation (TS) over 45% and homozygosity for the C282Y mutation. Liver biopsy is only required to search for
cirrhosis whenever there is
hepatomegaly and/or serum
ferritin >1000 ng/ml and/or elevated serum AST. Family screening is mandatory, primarily centered on the siblings. The treatment remains based on venesection
therapy which improves many features of the disease (one of the most refractory, however, being the joint signs) and permits normal life expectancy provided the diagnosis is established prior to the development of
cirrhosis or of
insulin-dependent diabetes. In view of the prevalence, the non-invasive diagnosis, the spontaneous severity and the efficacy of a very simple
therapy,
hemochromatosis should benefit from population screening. This screening could be based, first, on the assessment of
transferrin saturation, followed - when elevated - by the search for the C282Y mutation. The discovery of the HFE gene has also paved the road for the individualization of other types of
iron overload syndromes which are not HFE-related.