Open AccessCurrent Directions in Hemochromatosis Research: Towards an Understanding of the Role of Iron Overload and the HFE Gene Mutations in the Development of Clinical Disease
Author(s) -
Lisa M. Neff
Publication year - 2003
Publication title -
nutrition reviews
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.958
H-Index - 150
eISSN - 1753-4887
pISSN - 0029-6643
DOI - 10.1301/nr.2003.janr.38-42
Subject(s) - hereditary hemochromatosis , hemochromatosis , disease , diabetes mellitus , medicine , genetic testing , population , genetics , bioinformatics , pathology , biology , endocrinology , environmental health
Since the discovery of a candidate gene (HFE) thought to be involved in the development of hereditary hemochromatosis, there has been much interest in the potential use of genetic testing as a screening tool for the disease in the general population. However, a recent study suggests that less than 1% of subjects who are homozygous for the gene mutations will go on to develop the full‐blown disease of hereditary hemochromatosis, historically termed “bronzed diabetes.” The study also suggests that homozygotes have no higher risk of mortality or of any clinically significant morbidity than normal control subjects. This conclusion contradicts earlier findings that linked iron overload and HFE mutations to a number of devastating diseases, including cardiovascular disease, diabetes, and cancer.