Clinical characteristics of hereditary hemochromatosis patients who lack the C282Y mutation.

doi:10.1002/hep.510280233

Back to search

Article

Clinical characteristics of hereditary hemochromatosis patients who lack the C282Y mutation.

Hepatology (Baltimore, Md.) - 1 Aug 1998

Shaheen N J, Bacon B R, Grimm I S

Abstract excerpt

Approximately 85% of patients with typical hereditary hemochromatosis (HH) are homozygous for the C282Y mutation (C282Y/C282Y) in the recently identified candidate gene for HH. However, some HH patients are instead homozygous for the wild-type allele (wt/wt) at this locus. These wt/wt patients ma...

Topics

Cohort Studies
Female
Genotype
Hemochromatosis
Homozygote
Humans
Male
Middle Aged
Mutation
Phenotype

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.