Hereditary hemochromatosis (HH) is manifested as iron overload in different organs due to homozygosity of a single autosomal mutation. Two different mutations C282Y and H63D in the HFE gene have been associated with hereditary hemochromatosis cases. This disease is seen in northern european populations, but in India it is a rare disease. We report a young male with severe abnormalty of liver fu...

To determine whether release of tumor necrosis factor-alpha (TNF-alpha), a cytokine that affects iron homeostasis, may be selectively altered in hereditary hemochromatosis, we measured concentrations of TNF-alpha and interleukin-1 beta (IL-1 beta) in supernatants of cultured peripheral blood monocytes from 11 homozygotes for hereditary hemochromatosis, 11 healthy individuals, and five patients ...

Hemochromatosis is a disease marked by the pathologic appearance of large amounts of iron-containing pigment, hemosiderin, in various tissue cells, and is associated with periportal cirrhosis of the liver and pancreatic fibrosis. Three types of hemochromatosis have been recognized: 1. Idiopathic or endogenous hemochromatosis, wherein the intestinal “mucosal block” preventing excessive absorptio...

(" bronszed diabetes ") is a condition of unknown etiology in which the body iron stores are vastly inscreased ansd in which there is portal cirrhosis of the liver. Diabetes, pigmenstation of the skins, and pan-creatic fibrosis are frequently, though not invariably, present. Numerous blood transsfusionss ins certain patienits have resulted ins the productions of a condition clinically somewhat ...

Hereditary hemochromatosis is an iron-overload disorder resulting from mutations in proteins presumed to be involved in the maintenance of iron homeostasis. Mutations in hemojuvelin (HJV) cause severe, early-onset juvenile hemochromatosis. The normal function of HJV is unknown. Juvenile hemochromatosis patients have decreased urinary levels of hepcidin, a peptide hormone that binds to the cellu...

Hereditary hemochromatosis (HFE), which affects 1 in 400 and has an estimated carrier frequency of 1 in 10 individuals in Western population, results in multiple organ damage caused by iron deposition, and is treatable if detected early. C282Y mutation in HFE gene has been known to be responsible for the most hereditary hemochromatosis cases and 5-10% of white subjects are heterozygous for this...

It is well known that hepatic siderosis and high serum iron levels occur in most PCT patients. The role of genetic hemochromatosis in the pathogenesis of iron overload in PCT has been hypothesized for many years but it is only recently that the genetic defect causing hemochromatosis has been identified. There are two known mutations in the hemochromatosis gene (HFE): cystein 282 tyrosine (Cys28...