Olynyk, J. K., Cullen, D. J., Aquilia, S., Rossi, E., Summerville, L, and Powell, L. W. 1999. A population-based study of the clinical expression of the hemochromatosis gene. New England Journal of Medicine. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. New England Journal of Medicine.
Hereditary hemochromatosis is a condition characterized by iron overload in the body.
As a result of excess iron deposition, damage occurs to many organs. Characteristics of the disease include cirrhosis of the liver, diabetes mellitus, hypermelanotic pigmentation of the skin and heart failure. If detected early, hemochromatosis is a relatively easily treated disorder. It is not entirely clear how many individuals homozygous for the C282Y mutation clinically suffer from hemochromatosis or if mutations in genes other than HFE cause a clinically identical condition. In the first of these studies published in the New England Journal of Medicine , Olynyk et al. examined the prevalence and expression of the C282Y mutation.