Article
Haemochromatosis: pathological or beneficial.
Schweizerische medizinische Wochenschrift - 5 Dec 1998
Worwood M
Abstract excerpt
Genetic haemochromatosis (GH) is one of the most common autosomal recessive disorders in northern Europe. The majority of patients (approaching 90%) are homozygous for a single mutation (C282Y) of the HFE gene. The significance of a second mutation (H63D) in causing iron accumulation is not yet clear. The studies which led to the identification of the HFE gene are described along with recent work on mutation...
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