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...

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...

Mutations in the HFE (hemochromatosis) gene cause hereditary hemochromatosis, an iron overload disorder that is hallmarked by excessive accumulation of iron in parenchymal organs. The HFE mutation p.Cys282Tyr is pathologically most relevant and occurs in the Caucasian population with a carrier frequency of up to 1 in 8 in specific European regions. Despite this high prevalence, the mutation cau...

Abstract Objective : Hereditary hemochromatosis, or primary is a recessive genetic liver disorder caused by iron accumulation in tissues. This study evaluates patients with hereditary hemochromatosis to determine correlations between clinical and laboratory data. Methods The data analyzed this was gathered from the discharge records 2019 2021 of Gastroenterology Department Mures Country Emergen...

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

Oxidatively generated damage to nucleic acids is considered to play a significant role in carcinogenesis, and it has been shown that people with hereditary hemochromatosis are at increased risk of cancer. In this study we used a new refined liquid chromatography-tandem mass spectrometry method to measure the urinary excretion of oxidatively generated 8-oxo-7,8-dihydroguanine and related 2'-deox...