Hereditary haemochromatosis: diagnosis and management in the gene era.

Abstract excerpt

Hereditary haemochromatosis is a common inherited disorder of iron metabolism in Caucasian populations. Two mutations in the HFE gene are strongly associated with hereditary haemochromatosis. One of these mutations (Cys282-->Tyr; C282Y) is found homozygous in 90-95% of subjects with typical hered...

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