1932

Abstract

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 () was identified by positional cloning in 1996. Two missense mutations have been described in . 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 for both of these mutations. Mechanisms by which C282Y and H63D may disrupt the normal functioning of have been suggested, but the role of in the process of normal iron metabolism has yet to be clearly defined.

Loading

Article metrics loading...

/content/journals/10.1146/annurev.med.50.1.87
1999-02-01
2024-12-11
Loading full text...

Full text loading...

/content/journals/10.1146/annurev.med.50.1.87
Loading
/content/journals/10.1146/annurev.med.50.1.87
Loading

Data & Media loading...

  • Article Type: Review Article
This is a required field
Please enter a valid email address
Approval was a Success
Invalid data
An Error Occurred
Approval was partially successful, following selected items could not be processed due to error