Because the penetrance of HFE hemochromatosis is low, traditional population screening measuring the transferrin saturation is unlikely to be cost-effective because the majority of subjects detected neither have clinical disease nor are likely to develop it. Three independent studies show that only patients with serum ferritin concentrations more than 1000 microg/L are at risk for cirrhosis, on...

Background: The understanding of hereditary hemochromatosis, along with the availability of genetic testing, is changing the approach to diagnosis of the disease. Methods: A MEDLINE search was performed using multiple key words related to hemochromatosis and iron metabolism. Results: Most cases of hereditary hemochromatosis are caused by a single mutation to the HFE gene, resulting in unregulat...

Remarkable advances in understanding the pathogenesis of hereditary hemochromatosis have been made since 1996, the year in which the HFE gene, which is responsible for the vast majority of cases, was discovered. The recognition of the central role of the iron regulatory hormone hepcidin in the pathogenesis of hereditary hemochromatosis has been particularly significant. In addition to HFE, defe...

from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control mechanisms may not be reflected in this document. Changes may have been made to this work since it was submitted for publication. Abstract Iron abnormalities within the brain are associated with several rare but severe neurodegenerative conditions. There is growing evidence t...

BACKGROUND Inadequate hepcidin production leads to iron overload in nearly all types of hemochromatosis. We explored the acute response of hepcidin to iron challenge in 25 patients with HFE-hemochromatosis, in two with TFR2-hemochromatosis and in 13 controls. Sixteen patients (10 C282Y/C282Y homozygotes, 6 C282Y/H63D compound heterozygotes) had increased iron stores, while nine (6 C282Y/C282Y h...

It is not unusual for a disease to be considered rare when first described and to prove to be much more prevalent as the medical profession becomes aware of its existence. This seemed to be the case with hereditary hemochromatosis. But now the perception that hemochromatosis is a common disease has undergone a sudden reversal. Although everyone does not yet agree, the data that have accumulated...

In the current classifications of diabetes by the American Diabetes Association (ADA) (2006) (1) and the World Health Organization (WHO) (1999) (2), hereditary hemochromatosis is listed under the heading “diseases of the exocrine pancreas”; however, this classification does not comply with the current evidence of diabetes secondary to iron overload. The common form of hereditary hemochromatosis...