BACKGROUND AND OBJECTIVE Most patients with hereditary hemochromatosis are homozygous for a Cys282AETyr mutation in the HFE gene. This mutation has been shown to impair the association of the HFE gene product with b(2)-microglobulin and to prevent its cell surface presentation in transfected COS-7 and 293 cells. This study was performed to examine the expression of HFE protein in epithelial cel...

Hereditary hemochromatosis is an inherited pathological condition characterized by iron overload in several vital organs including heart. To increase our understanding of the underlying pathogenic mechanisms of hereditary hemochromatosis, we used a HFE gene knockout mouse model that replicates hereditary hemochromatosis. A group of mice with no copies of HFE gene and corresponding wild-type mic...

Wallace DF, Summerville L, Crampton EM, Subramaniam VN. Defective trafficking and localization of mutated transferrin receptor 2: implications for type 3 hereditary hemochromatosis. Am J Physiol Cell Physiol 294: C383–C390, 2008. First published December 19, 2007; doi:10.1152/ajpcell.00492.2007.—Transferrin receptor 2 (TfR2), a homologue of transferrin receptor 1 (TfR1), is a key molecule invol...

A positive iron balance inevitably leads to iron overload. 1 Excluding red blood cell transfusion, iron loading usually reflects an altered mucosal regulation of iron absorption, observed both in genetic conditions not associated with anemia and in iron-loading anemias. 2,3 The best characterized form of genetic iron overload is a common recessive HLA-linked disorder, initially called idiopathi...

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...