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 (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...

We report a 23-year-old man with beta-thalassemia major and transfusional hemochromatosis, which manifested as diabetic ketoacidosis and hypogonadotropic hypogonadism. This unusual presentation of diabetic ketoacidosis in hemochromatosis has rarely been reported. Magnetic resonance imaging of the abdomen showed decreased signal intensity in the liver, spleen, and pancreas. In addition, the pitu...

Disturbances in iron metabolism can be genetic or acquired and accordingly manifest as primary or secondary iron overload state. Organ damage may result from iron overload and manifest clinically as cirrhosis, diabetes mellitus, arthritis, endocrine abnormalities and cardiomyopathy. Hemochromatosis inherited as an autosomal recessive disorder is the most common genetic iron overload disorder. E...

CLINICAL CASE We report a case of a 31 year-old woman with a sudden visual loss due to a cilioretinal artery occlusion. The physical examinination showed hepatomegaly. Serum iron and ferritin and transferrin saturation were unusually high. The doppler scan of carotid arteries showed no relevant signs of atheromatous disease. Dilated cardiomiopaty was revealed in the B-scan with subendocardial c...

riginally regarded as a rare affliction notable for its distinctive evolution to “bronze diabetes,” hereditary emochromatosis is now recognized as the most common genetic disorder in populations of European ncestry. Recent advances in our understanding of iron metabolism, the identification of the gene esponsible for hemochromatosis, and large epidemiologic studies have changed the diagnostic a...

Withholding iron from potential pathogens is a host defense strategy. There is evidence that iron overload per se compromises the ability of phagocytes to kill microorganisms. Several hypotheses exist to explain the association of hemochromatosis with infection. A combination of mechanisms likely contributes to the increase in susceptibility to infection in these patients. A review of the curre...