Hereditary hemochromatosis is most commonly caused by homozygosity for a point mutation (C282Y) in the human hemochromatosis gene (HFE). The mechanism by which HFE regulates iron absorption is not known, but the C282Y mutation results in loss of cell surface expression of the human hemachromatosis protein (HFE) and hyperabsorption of iron by the duodenal enterocyte. Mice homozygous for a deleti...

Hereditary HFE-linked hemochromatosis is a frequent recessive disorder among individuals of northern European ancestry. The clinical characteristic of this disease is the gradual accumulation of iron in internal organs, which ultimately may lead to organ damage and death. Three allelic variants of HFE gene have been correlated with hereditary hemochromatosis: C282Y is significantly associated w...

Hereditary Hemochromatosis (HH) is one of the most common genetic diseases in Caucasian population, with a prevalence 1:200/400. Among four different types, form Type 1, homozygous p.C282Y variant HFE gene, which guanosine replaced by an adenosine (c.845 G>A). This results misfolding protein, can no longer reach cell membrane hepatocytes, thereby losing its ability to work as sensor for iron co...

The hepatic peptide hepcidin is the key regulator of iron metabolism in mammals. Recent evidence indicates that certain forms of hereditary hemochromatosis are caused by hepcidin deficiency. Juvenile hemochromatosis is associated with hepcidin or hemojuvelin mutations, and these patients have low or absent urinary hepcidin. Patients with C282Y HFE hemochromatosis also have inappropriately low h...

BACKGROUND Therapeutic phlebotomy for hereditary hemochromatosis is relatively safe and presumably efficacious when offered before cirrhosis develops, so screening primary care patients is of substantial interest. PURPOSE To conduct a systematic review of the evidence on 1) the prevalence of the disease in primary care, 2) the risk for morbid or fatal complications for untreated patients, 3) ...

Hereditary hemochromatosis is one of the most common autosomal recessive diseases; it is characterized by excess absorption of iron. Clinically, the major challenge is to diagnose increased iron deposition before irreversible tissue damage has occurred. C282Y and H63D are the main mutations related to hereditary hemochromatosis; these mutations have been reported to be associated with increased...

Introduction. Between 20 - 60% of patients with chronic hepatitis C present elevated serum ferritin and iron, as well increased transferrin saturation, yet without a significant liver iron burden. The objective this article was to summarize current knowledge on interactions between virus infection metabolism. Case Report. A 34-year-old female patient positive for genotype 3, underwent therapy p...

(2013) Brain transcriptome perturbations in the transferrin receptor 2 mutant mouse support the case for brain changes in iron loading disorders, including effects relating to long-term depression and long-term potentiation. Neuroscience, 235. pp. 119-128. NOTICE: this is the author's version of a work that was accepted for publication in Neuroscience. Changes resulting from the publishing proc...