|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The most common form of HH is caused by mutations in the HFE gene, with most cases of HH presenting in patients who are homozygous for the Cys282Tyr mutation.
|
20010968 |
2010 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
HFE C282Y homozygotes without phenotypic expression do not have significantly decreased duodenal gene expression of iron transport genes compared with HH subjects with iron overload.
|
19892936 |
2010 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hereditary hemochromatosis (HH), most often due to HFE C282Y homozygosity, is an iron overload disorder that can result in severe morbidity including hepatic cirrhosis.
|
19930418 |
2010 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hereditary hemochromatosis (HH) is an autosomal recessive disorder mainly associated with homozygosity for the C282Y and H63D mutations in the hemochromatosis (HFE) gene.
|
20196837 |
2010 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A total of 139 subjects were diagnosed with HH (C282Y homozygotes = 87, C282Y/H63D = 26 heterozygotes, H63D homozygotes = 26), 27 healthy control subjects with no HFE mutation (N/N), 18 normal subjects heterozygous for the H63D mutation served as age-sex-matched controls.
|
20193033 |
2010 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hereditary hemochromatosis has been linked with C282Y and H63D mutations of the HFE gene encoding human hemochromatosis protein.
|
20424537 |
2010 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
the aims of this study were to identify HJV and HAMP mutations and to analyze their impact on HH phenotype in non-p.C282Y homozygous individuals.
|
21039223 |
2010 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Most HH cases are homozygous for the C282Y mutation in the HFE gene, but accurate prevalence data for the Norwegian population is lacking.
|
20073670 |
2010 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The most frequent genotype associated with HH was the homozygous p.C282Y mutation (n=11, 22.0%).
|
20843714 |
2010 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Patients with HH carrying the HFE gene who were homozygous for the Cys282Tyr mutation, serum ferritin levels of 300-2000 ng/mL, transferrin saturation ≥ 45%, and no known history of cirrhosis were enrolled in this dose-escalation study to characterize the safety and efficacy of deferasirox, comprising a core and an extension phase (each 24 weeks).
|
20814896 |
2010 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
C282Y and H63D are the main mutations related to hereditary hemochromatosis; these mutations have been reported to be associated with increased risk of developing diabetes mellitus type 2 (DM2).
|
19876870 |
2009 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Approximately one-half of Brazilian patients with hereditary hemochromatosis (HH) are neither homozygous for the C282Y mutation nor compound heterozygous for the H63D and C282Y mutations that are associated with HH in Caucasians.
|
19759876 |
2009 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Data on HFE-genotype, iron parameters, demographics, lifestyle factors and health, were collected from 224 Dutch C282Y homozygous patients with clinically diagnosed HH and 735 of their first-degree family members (FDFM), all participating in the HEmochromatosis FAmily Study (HEFAS).
|
19008010 |
2009 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Most hereditary hemochromatosis (HH) patients are homozygous for the C282Y mutation of the HFE gene.
|
19214511 |
2009 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We investigate the prevalence of C282Y, H63D and S65C mutations in 95 individuals (77 males, 18 females) bearing iron metabolism alterations to establish an early diagnosis of HH.
|
19656448 |
2009 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Development of hereditary hemochromatosis is associated with the C282Y, H63D or S65C mutations in the hemochromatosis gene.
|
19681031 |
2009 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The most frequent genotype associated with Hereditary hemochromatosis is the homozygosity for C282Y, a common HFE mutation.
|
18762941 |
2009 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Three allelic variants of HFE gene have been correlated with hereditary hemochromatosis: C282Y is significantly associated with hereditary hemochromatosis in populations of Celtic origin, H63D and S65C are associated with milder form of iron overload.
|
19822954 |
2009 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The application of the hemochromatosis genetic test in large population studies often initiated to investigate other diseases has provided a fascinating glimpse into the natural history of untreated C282Y homozygotes followed for over 20 years without phlebotomy treatment.
|
19907150 |
2009 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Most persons who are homozygous for C282Y, the HFE allele most commonly asssociated with hereditary hemochromatosis, have elevated levels of serum ferritin and transferrin saturation.
|
18199861 |
2008 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
To determine the contribution of the C282Y and H63D mutations in the HFE gene to clinical expression of hereditary hemochromatosis.
|
11399207 |
2008 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis.
|
18848943 |
2008 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
I propose that hereditary hemochromatosis and in particular the common HFE C282Y mutation may represent an adaptation to decreased dietary iron in cereal grain-based Neolithic diets.
|
17689879 |
2008 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hereditary haemochromatosis has been linked with C282Y and H63D mutations of the HFE gene.
|
18263976 |
2008 |
|
rs1800562
|
|
|
0.800 |
GeneticVariation |
BEFREE |
HFE has been amongst the preferred targets of interest, since the discovery that its C282Y mutation was associated with HH.
|
18053083 |
2008 |