Genetics of hemochromatosis.

@article{Cullen1999GeneticsOH,
  title={Genetics of hemochromatosis.},
  author={Louise M. Cullen and Gregory J Anderson and Grant A Ramm and Elizabeth C. Jazwinska and Lawrie William Powell},
  journal={Annual review of medicine},
  year={1999},
  volume={50},
  pages={87-98}
}
Hereditary hemochromatosis (HHC) is a common autosomal recessive disorder of iron metabolism that results in progressive iron overload and can be fatal if untreated. The hemochromatosis gene (HFE) was identified by positional cloning in 1996. Two missense mutations have been described in HFE. The majority of HHC patients are homozygous for a cysteine-to-tyrosine substitution (C282Y); however, a small number are homozygous for a histidine-to-aspartic-acid substitution (H63D) or are heterozygous… CONTINUE READING

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