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Most (80%-90%) cases of Hereditary Hemochromatosis are caused by an autosomal recessive mutation in the HFE gene; specifically, the most common genetic mutation is homozygosity for C282Y.Two less common mutations are H63D and S65C, which usually only cause signs and symptoms of iron overload when present as compound heterozygotes with C282Y.
Carriers of hemochromatosis gene (HFE) 845A and 187G alleles have significantly higher mitochondrial DNA (mtDNA) levels than noncarriers, but mtDNA declines among all individuals on study during 48 weeks on uninterrupted antiretroviral therapy (ART). Increased cellular mtDNA content may represent a compensatory response to mitochondrial stress that is influenced by iron-loading HFE variants.
HFE SNPs (C282Y and H63D) affect serum hepcidin-25 levels and iron status parameters in patients with end-stage renal disease.
The article reviews the literature considering the role of HFE gene mutations regarding its impact in children.
The aim of our study was to investigate whether the HFE genotype modifies the blood lead levels that affect the distributions of serum iron and other red blood cell indices
findings suggest that selective pressure by mild iron deficiency contributes to the high frequencies of the p.H63D variant.
The role of HFE C282Y and H63D in the pathogenesis of iron deficiency anemia (IDA) in celiac disease (CD) patients was studied at diagnosis and after 1 year of gluten-free diet. C282Y, but not H63D, was increased in CD compared with controls. CD patients with H63D mutation showed higher Hb, MCV, serum iron, and ferritin levels than subjects without HFE mutations. This study suggests a protective role of HFE in IDA CD.
Liver cirrhosis in HFE p.C282Y homozygotes is significantly associated with age, diabetes, daily alcohol intake, and iron removal by phlebotomy.
Our screening approach could not identify an increased prevalence of HFE gene mutations and iron overload in younger patients with severe osteoarthritis of the hip.
In the large UK Biobank community sample, HFE p.C282Y homozygotes experienced substantial excess prevalent and incident clinical morbidity.
Our findings suggest that low hemoglobin levels may be associated with increased absorption of cadmium among HFE H63D homozygotes, and we found tentative evidence for a similar relationship between hemoglobin and cadmium among Transferrin P570S homozygotes. Finally we found evidence that low vitamin C intake may result in increased cadmium uptake, and this relationship appeared stronger among those with HFE H63D variants.
Cardiac iron levels increased progressively with age, which was exacerbated in hemochromatosis protein (Hfe)-deficient mice.
HFE mutations in idiopathic erythrocytosis.
Overall, this increased understanding of the role of HFE in the immune response sets the stage for better treatment and management of hereditary hemochromatosis and other iron-related diseases, as well as of the immune defects related to this condition.
Results show that cystic fibrosis (CF) patients who carry a HFE gene mutation, particularly the C282Y substitution, demonstrate accelerated lung function and worsening of disease suggesting that HFE C282Y mutation is associated with CF severity and progression.
This study showed that the Iron related hemochromatosis (HFE) gene mutations in Friedreich Ataxia patients.
p.Cys282Tyr homozygous women are diagnosed HFE Hemochromatosis at a later age than men, and thus corroborates the existence of a difference in the expression of this genotype between men and women. Nevertheless, these results do not confirm the protective effect typically attributed to pregnancy to explain the slower iron accumulation in women.
HFE could be a potential susceptibility gene for isolated recurrent aphthous oral ulcers
HFE mutation is associated with a lower level of aerobic capacity, even in the absence of iron accumulation.
Three single nucleotide polymorphisms associated with iron regulation were genotyped in multiple sclerosis : two in the human hereditary hemochromatosis protein gene HFE: rs1800562 (C282Y mutation) and rs1799945 (H63D mutation), as well as the rs1049296 SNP in the transferrin gene (C2 mutation). We only observed a higher prevalence of TF-C2 in multiple sclerosis patients
the HFE genotype impacts the expression of tyrosine hydroxylase in the substantia nigra, the gut microbiome and the response to paraquat providing additional support that the HFE genotype is a disease modifier for Parkinson's disease
the osteoporotic phenotype was only evident in Hfe-KO mice fed the iron-enriched diet. This appeared to result from an imbalance between bone formation and bone resorption driven by iron toxicity associated to Hfe-KO and confirmed by a decrease in bone microarchitecture parameters (identified by micro-CT) and osteoblast number
the rate of radiolabeled iron uptake was similar between the two Hfe genotypes despite higher brain iron concentrations in the mutant
H67D mutation in HFE gene is associated with decreased susceptibility to manganese accumulation in the brain and neurotoxicity induced by inhaled manganese.
the aging HFE KO mouse on an SV129 genetic background has the potential to facilitate the investigation of cardiomyopathy induced by HFE gene mutations.
unlike homozygous Hfe deletion, heterozygous gene deletion disrupted glucose homeostasis but did not affect lipid metabolism or liver injury.
Single Hjv(-)/(-) and double Hfe(-)/(-)Hjv(-)/(-) mice exhibit comparable iron overload. Hfe and Hjv regulate hepcidin via the same pathway.
Results show that HFE requires HJV to activate downstream signal transduction pathways for hepcidin regulation.
Alterations in cholesterol metabolism associated with expression of H63D-HFE may contribute to the development of AD.
results provide evidence that HFE induces hepcidin expression via the BMP pathway: HFE interacts with ALK3 to stabilize ALK3 protein and increase ALK3 expression at the cell surface.
These results support in vivo studies which suggest that Hfe and Tfr2 can independently regulate hepcidin.
A mutation in the HFE gene is associated with altered brain iron profiles and increased oxidative stress in mice.
Hfe-knockout mice did not have higher brain iron levels than wildtype controls.
Hfe(-/-) retinal pigment epithelial cells exhibited slower senescence rate and higher survivin expression than wild type cells. Hfe(-/-) cells migrated faster and showed greater glucose uptake and increased expression of GLUTs.
Findings suggest a novel role for Hfe and/or imbalanced iron homeostasis in the regulation of the inflammatory response in the lung and hereditary hemochromatosis.
Double mutant mice lacking functional Hfe or Tfr2 and Tmprss6 exhibited a severe iron deficiency microcytic anemia phenotype mimicking the phenotype of single mutant mice lacking functional Tmprss6 demonstrating that Hfe and Tfr2 are not substrates for Tmprss6.
Disruption of both Hfe and Tfr2 caused more severe hepatic iron overload with more advanced lipid peroxidation, inflammation, and portal fibrosis than was observed with the disruption of either gene alone.
the Hfe(-/-) mouse brain showed numerous significant changes in transcript levels although few of these related to proteins directly involved in iron homeostasis
Loss of central and peripheral CD8+ T-cell tolerance to HFE in mouse models of human familial hemochromatosis.
Hfe(-/-) mice show defective hepatic-intestinal iron and lipid signaling, which predispose them toward diet-induced hepatic lipotoxicity, accompanied by an accelerated progression of injury to fibrosis.
The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined.
MHC class I-like protein HFE
, hereditary hemochromatosis protein
, hereditary hemochromatosis protein HLA-H
, high Fe
, hereditary hemochromatosis protein homolog
, hemochromatosis protein