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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 18-05-2016
Symbol HFE
Location 6p21.3
Name hemochromatosis
Other name(s) hemochromatosis, hereditary
Corresponding gene HFE
Other symbol(s) HH, HLAH
Main clinical features
  • adult form, characterized by increased iron absorption of dietary iron leading to iron accumulation and cirrhosis of the liver, diabetes mellitus, skin pigmentation, cardiac arrhythmia, failure and arthropathy, excluding juvenile form, with increased risk of acute myocardial infarction in carriers of the Cys282 Tyr mutation, but not increased risk hepatocellular carcinoma
  • Genetic determination autosomal recessive
    Function/system disorder digestive tract/liver and annex
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    unknown     most prevalent mutations (C282Y) present in 60p100 of cases or more
    unknown     H63D in about 15p100, often associated with 16189 variant of mitochondrial DNA or with mutant HFE2 (severe form)