The rate of HFE c.845G>A (p.Cys282Tyr) homozygotes in the CRC group reinforces a previously reported, but relatively unexplored, association between hemochromatosis and CRC.
Homozygosity for the p.C282Y substitution in the HFE protein encoded by the hemochromatosis gene on chromosome 6p (HFE) is a common genetic trait that increases susceptibility to iron overload.McLaren et al. used bivariate mixture modeling to analyze the joint population distribution of transferrin saturation (TS) and serum ferritin concentration (SF) measured for participants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study.
While mutation in the hemochromatosis ( HFE) gene disrupts iron homeostasis and promotes oxidative stress that increases the risk of neurodegeneration, it is largely unknown whether HFE mutation modifies GABAergic homeostasis and emotional behavior.
Subjects with the C282Y substitution in the HFE protein (C282Y mutation) had a lower FEV<sub>1</sub> percentage predicted (54% versus 66%, p = 0.029) and accelerated rate of FEV<sub>1</sub> decline (-110 mL versus -80 mL per year respectively, p < 0.001) compared to subjects with a normal HFE genotype.
The homeostatic iron regulator <i>HFE</i> (hemochromatosis) mutation, which has been shown to affect iron absorption and iron overload, is hypothesized to be related to lead intoxication in vulnerable individuals.
Carriers of HFE gene variants (N = 24) had significantly higher mtDNA levels than noncarriers (N = 61), after adjusting for age, race, sex, and type of ART [adjusted β-coefficient 297, p-value < .001 for at least one HFE variant], but mtDNA declined among all individuals on study during 48 weeks on ART.
The occurrence of hemochromatosis in HS is extremely rare, and previous reports have shown that the coexistence of heterozygosity for the HFE gene mutation in HS patients causes excess iron storage.
In this prospective cross-sectional study, 940 patients aged <70 years with end-stage osteoarthritis of the hip undergoing elective joint replacement surgery were screened for HFEhemochromatosis and compared to age- and sex-matched controls.
Our main aim is to provide an objective, simple, brief, and practical set of recommendations about therapeutic aspects of HFEhemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype, based on the published scientific studies and guidelines, in a form that is reasonably comprehensible to patients and people without medical training.
We evaluated if the genetic disruption of Nrf2 would prompt the development of liver damage in Hfe<sup>-/-</sup> mice (an established model of human HFE-hemochromatosis).
The population also contain individuals with the Swedish long QT syndrome (LQTS1) founder mutation (<i>KCNQ1</i>/p.Y111C) which in homozygotes causes the Jervell & Lange Nielsen syndrome (JLNS) and hearing loss (HL).Aims of the study were to test whether the Swedish long QT founder mutation originated in an ancestral HFE family and if carriers had an increased risk for hemochromatosis (HH), a treatable disorder.
HFEp.C282Y homozygosity predisposes to rapid serum ferritin rise after menopause: A genotype-stratified cohort study of hemochromatosis in Australian women.
Molecular and clinical genetic studies have led to the identification of genes other than HFE in patients with inherited diseases associated with increased hepatic iron storage that can cause hemochromatosis, which adds complexity to a diagnostic approach to patients with suspected hemochromatosis.