Haemochromatosis.

Abstract excerpt

Genetic haemochromatosis (GH) is the most common, autosomal recessive disorder in Northern Europe. The studies which led to the identification of the HFE gene are described. In the UK over 90% of patients with GH are homozygous for the C282Y mutation of this gene. This mutation is confined to populations of European origin. The significance of another mutation, H63D, in causing iron overload is less certain....

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