[Hereditary hemochromatosis].

Abstract excerpt

Genetic hemochromatosis is classified into four subtypes of which only type 1 is of clinical importance in Caucasians. Type 1 is due to an autosomal recessive inborn error of metabolism; the homozygous C282Y mutation of the HFE gene on chromosome 6 accounts for more than 90% of the clinical phenotype in populations of Celtic origin. The mutation leads to an inadequately high intestinal iron absorption which may...

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