|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Five patients had no HFE mutations; one of these patients unequivocally has iron overload with a hepatic iron index of 4.4 We conclude that: (1) Identification of HFE mutations will be clinically useful in identifying patients with hereditary hemochromatosis, (2) Patient genotyping will help confirm a diagnosis of hereditary hemochromatosis in some patients with relatively low body iron stores, (3) Significant iron loading can occur in the absence of homozygous C282Y, adding to the evidence that genes other than HFE may be involved in iron loading, and (4) Homozygous H63D can be associated with significant iron overload.
|
9410475 |
1997 |
|
rs1800562
|
|
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 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Compound heterozygotes for the C282Y and the H63D mutations may have a higher risk of iron overload or genetic hemochromatosis than single heterozygotes for the C282Y mutation.
|
9410470 |
1997 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
The analysis of HFE gene mutations (C282Y and H63D) is a simple and strong tool in the diagnostic work out of iron overload conditions.
|
9658731 |
1998 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
There were four homozygotes for C282Y with no biochemical evidence of iron overload.
|
9453492 |
1998 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
The prevalence of C282Y homozygotes was significantly greater in the hepatic siderosis group (32%) than in the control group (0%), confirming the association between this homozygous mutation and hepatic iron overload.
|
9576576 |
1998 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Sixty patients diagnosed with hereditary hemochromatosis with grade 3 or 4 hepatic iron overload and 18 patients diagnosed with hereditary hemochromatosis who had less than grade 3 hepatic iron overload were examined for the HFE gene mutations, 845A (C282Y) and 187G (H63D).
|
9851896 |
1998 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
C282Y homozygotes showed more severe iron overload than the other HFE genotypes.
|
9558289 |
1998 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
We performed PCR-based analysis for the haemochromatosis-related HFE C282Y mutation in an extended family with inherited haemolytic anaemia in which several members exhibited iron overload.
|
9753042 |
1998 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
In Australia, 17.3% of subjects homozygous for the C282Y mutation do not express iron overload to meet current diagnostic criteria of hemochromatosis.
|
9558290 |
1998 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
The Cys282Tyr mutation is responsible for most of the mild iron overload found in NASH and thus has a significant association with hepatic damage in these patients.
|
9453491 |
1998 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
The understanding of the C282Y and H63D mutations is still evolving, and the algorithm and the contribution of various heterozygous mutations to the diagnosis and management of iron overload need to be confirmed by further clinical and genetic studies.
|
9706768 |
1998 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
A total of 161 non-C282Y-homozygous patients with unexplained hepatic iron overload were included.
|
10535879 |
1999 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Iron overload in patients with the non-C282Y +/+ genotype is mild to moderate, strikingly lower than in C282Y homozygotes, and is not influenced by HFE genotype, except, to a small extent, for compound heterozygotes.
|
9922318 |
1999 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
IVS3 + 1G --> T in the compound heterozygous state with C282Y results in iron overload that can progress to a severe phenotype of classical hemochromatosis.
|
10348824 |
1999 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Hereditary hemochromatosis is associated with homozygosity for the C282Y mutation in the hemochromatosis (HFE) gene on chromosome 6, elevated serum transferrin saturation, and excess iron deposits throughout the body.
|
10471457 |
1999 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
The data indicated that differences in the extent of iron overload were not mediated by co-inheritance of the C282Y mutation in the HFE gene but could largely be explained by differences in the severity of anaemia and ineffective erythropoiesis, and in the age of the patient.
|
10583252 |
1999 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Mistyping rather than lack of disease association provides a plausible explanation for the phenomenon of C282Y homozygosity without iron overload.
|
10575550 |
1999 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Iron overload in patients with sideroblastic anaemia is not related to the presence of the haemochromatosis Cys282Tyr and His63Asp mutations.
|
10027719 |
1999 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Determination of HFE genotype is clinically useful in patients with liver disease and suspected iron overload and may lead to identification of otherwise unsuspected C282Y homozygotes.
|
10383365 |
1999 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
On the other hand, a dysmetabolic iron overload syndrome has recently been described and the search for the C282Y and H63D mutations revealed that none of the patients was homozygous for C282Y while 67% exhibited one of the mutations.
|
9858853 |
1999 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
The description of two mutations in the HFE gene (Cys282Tyr and His63Asp) related to hereditary hemochromatosis provides an opportunity to address the question of the association between iron overload and atherosclerosis.
|
10719381 |
2000 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
The aim of the present study was to investigate the frequency of C282Y and H63D mutations and HCV infection in Brazilian patients with PCT and their relationship with iron overload.
|
11151887 |
2000 |
|
rs1800562
|
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
An Australian family studied illustrated the relative contribution of C282Y and H63D in iron overload.
|
11186424 |
2000 |
|
rs1800562
|
|
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 |