|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Current directions in hemochromatosis research: towards an understanding of the role of iron overload and the HFE gene mutations in the development of clinical disease.
|
12638463 |
2003 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
In iron-normalized patients with HFE hemochromatosis, both the low baseline hepcidin level and the weak response to iron contribute to hyperabsorption of iron.
|
21173098 |
2011 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Conditional probabilities were determined using published Australian allele frequencies and penetrance data to determine the detection rate of hemochromatosis by testing the siblings and offspring of heterozygotes (subjects with only one HFE mutation).
|
12121511 |
2002 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
The natural history of untreated HFE-related hemochromatosis.
|
19907150 |
2009 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
Some clinical and pathologic characteristics, such as low penetrance in the premenopausal woman, and early iron deposition in periportal hepatocytes resembled those of classic, HFE-related hemochromatosis.
|
11984516 |
2002 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
Non-HFE hemochromatosis.
|
16315138 |
2005 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Subjects with hemochromatosis are valuable as blood donors independent of their HFE genotype.
|
20345568 |
2010 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The identification of the HFE gene involved in hemochromatosis allows genetic tests based on mutation analysis to be performed.
|
10870847 |
2000 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
Iron chelation with deferasirox in two patients with HFE hemochromatosis and chronic anemia.
|
21659727 |
2011 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Rare HFE variants are therefore the most frequent cause of hemochromatosis in non-C282Y homozygote HFE patients.Am.J. Hematol.91:1202-1205, 2016.
|
27518069 |
2016 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The low prevalence of the C282Y mutation of the HFE gene in Japan means that the genetic background of hemochromatosis in Japanese patients remains unclear.
|
15749661 |
2005 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A recently developed strip-assay for hemochromatosis provides a rapid method for simultaneous detection of multiple mutations, which among others includes the HFE gene mutations V53M, V59M, H63D, H63H, S65C, Q127H, E168Q, and C282Y, previously detected in the general South African population using gel-based mutation-screening methods.
|
15025725 |
2004 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The evidence that mutations in the HFE gene for hemochromatosis are associated with increased cancer risk is inconsistent.
|
20099304 |
2010 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Frequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood donors in the Faroe Islands.
|
15042317 |
2005 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
These data indicate that in human HFE-HC a disrupted BMP/SMAD signaling in the liver is key in the pathogenesis of the disease.
|
20863724 |
2010 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
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).
|
27936457 |
2017 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
EASL clinical practice guidelines for HFE hemochromatosis.
|
20471131 |
2010 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Our data do not confirm an association of PCT with the Cys282Tyr HFE mutation, strongly associated with hemochromatosis in Northern European countries.
|
9425935 |
1998 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
Although HFE-related hemochromatosis is the most widespread, other forms of HH have subsequently been identified.
|
17943492 |
2007 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
SNPs at ARNTL, TF, and TFR2 affect iron markers in HFE C282Y homozygotes at risk for hemochromatosis.
|
25352340 |
2014 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we examined whether serum ferritin, an indicator of total body iron stores, correlates with clinical features in patients with OA, and whether the hemochromatosis Fe (HFE) gene mutation plays a role.
|
24401005 |
2014 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Patients with C282Y HFE hemochromatosis also have inappropriately low hepcidin levels for the degree of iron loading.
|
15486069 |
2005 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Genetic predisposition to hemochromatosis involves several different point mutations in the HFE gene.
|
18624620 |
2008 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
Universal screening for hereditary hemochromatosis is not recommended, but testing should be performed in first-degree relatives of patients with classical HFE-related hemochromatosis, those with evidence of active liver disease, and patients with abnormal iron study results.
|
23418762 |
2013 |
|
HEMOCHROMATOSIS, TYPE 1
|
0.900 |
Biomarker
|
disease |
BEFREE |
To date, four types of hemochromatosis have been identified: HFE-related or type1 hemochromatosis, the most frequent form in Caucasians, and four rare types, named type 2 (A and B) hemochromatosis (juvenile hemochromatosis due to hemojuvelin and hepcidin mutation), type 3 hemochromatosis (related to transferrin receptor 2 mutation), and type 4 (A and B) hemochromatosis (ferroportin disease).
|
24321703 |
2014 |