|
Iron Overload
|
|
0.100 |
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 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
An Australian family studied illustrated the relative contribution of C282Y and H63D in iron overload.
|
11186424 |
2000 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
The prevalences of reports of iron overload-associated abnormalities were not significantly different in these 16 C</span>282Y homozygotes and in HFE wt/wt control participants aged 25-29 years who did not report having hemochromatosis or iron overload.
|
17949288 |
2007 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
They had an important iron overload with liver iron concentration to age ratio >2.5, no previous venesection therapy and were C282Y homozygotes (n=37) or compound C282Y/H63D heterozygote (n=1).
|
15928800 |
2005 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Only one of 101 (1%) controls was homozygous for the C282Y mutation and this individual currently shows evidence of iron overload.
|
9462220 |
1997 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan.
|
31522215 |
2019 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Comment on: Hemochromatosis (HFE) gene mutations (H63D and C282Y) and iron overload in beta-thalassemia major.
|
31707418 |
2019 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
We identified 86 patients with C282Y/C282Y or C282Y/H63D HH and iron overload (hepatic iron concentration (HIC) >2,200 microg/g for males, >1,600 microg/g for females).
|
16584391 |
2006 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
C282Y/C282Y was not detected in 48 patients with "abnormality probably not an iron overload disorder."
|
11960574 |
2001 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
White blood cells and subtypes in HFE p.C282Y and wild-type homozygotes in the Hemochromatosis and Iron Overload Screening Study.
|
27915113 |
2017 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
The C282Y HFE variant is more commonly associated with hereditary hemochromatosis, which is an autosomal recessive disorder, characterized by iron overload in a number of systemic organs.
|
21346098 |
2011 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
There were four homozygotes for C282Y with no biochemical evidence of iron overload.
|
9453492 |
1998 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
However, the single identified C282Y homozygous male (age 21) showed definite signs of iron overload.
|
11358395 |
2001 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Further studies are required to determine whether this is related to iron overload, HFE alleles, or other factors on C282Y-positive chromosome 6p haplotypes.
|
20031565 |
2009 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Previous studies in high and low expressors has demonstrated that a variant in the GNPAT gene (D519G, Rs11558492, chromosome 1, exon 11) has been associated with severe iron overload in C282Y homozygotes for hemochromatosis.
|
27740525 |
2017 |
|
Iron Overload
|
|
0.100 |
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 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Two had severe iron overload and no anemia: one also had HFE C282Y homozygosity, and the other was wildtype for HFE and other iron-related genes.
|
16446107 |
2007 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Screening for hemochromatosis in apparently healthy subjects homozygous for the C282Y mutation with or without a family history reveals comparable levels of hepatic iron overload and disease.
|
16476869 |
2006 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Genetic testing is currently not recommended for population screening because of low yield as the majority of the healthy, asymptomatic p.C282Y homozygotes do not develop clinically significant iron overload.
|
19444013 |
2009 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Hereditary hemochromatosis (HH) is a disorder of iron metabolism that leads to iron overload in middle age and can be caused by homozygosity for the C282Y mutation in the HFE gene.
|
10953958 |
2000 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
We observed different association for H63D allele with iron overload (OR 1.54, CI 95 %1.16-2.03) and none in allele C282Y.
|
17297430 |
2007 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Frequency of primary iron overload and HFE gene mutations (C282Y, H63D and S65C) in chronic liver disease patients in north India.
|
17589946 |
2007 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
There were reports of 24 unrelated African-Americans and 15 unrelated Native Africans without HFE C</span>282Y who had iron overload.
|
17490902 |
2007 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
This putative genetic modifier of iron overload expression accounts for 11% (95% CI 0.4%, 22.6%) of the variance in serum ferritin levels of C282Y homozygotes.
|
19673882 |
2009 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
In this pilot study, common variants of the apolipoprotein E (APOE) and HFE genes resulting in the iron overload disorder of hereditary hemochromatosis (C282Y, H63D and S65C) were evaluated as factors in sporadic AD in an Ontario sample in which folic acid fortification has been mandatory since 1998.
|
18525129 |
2008 |