HEMOCHROMATOSIS

Genetic haemochromatosis (GH) is the most common autosomal recessive d isorder in Northern Europe. The studies which led to the identificatio n of the HEE gene are described. In the UK over 90% of patients with G H are homozygous for the C282Y mutation of this gene. This mutation is confined to populations of European origin. The significance of anoth er mutation, H63D, in causing iron overload is less certain. Prelimina ry studies on the localization of the protein and the effects of the m utations are described. Genetic testing and the measurement of iron st atus now provide the means to allow for widespread testing for the pre vention of iron overload and its consequences. However, questions rema in about th clinical penetrance of GH.