|
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 |
H63D polymorphism is associated with iron overload in BTM patients.
|
31522215 |
2019 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
H63D mutation aggravates the iron overload status in pediatric ALL survivors.
|
28211293 |
2017 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
The H63D/H63D genotype and H63D allele predispose individuals to HF and MS. MRI revealed iron overload in 33% of patients.
|
25864213 |
2016 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Laboratories were graded for accuracy of genotype determination (six possible C282Y/H63D genotypes) and clinical interpretation regarding whether the genotype was likely to have contributed to iron overload in a hypothetical patient.
|
27124787 |
2016 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Further evaluation revealed that the patient was homozygous for the HFE H63D gene mutation, associated with hereditary hemochromatosis.Both Busulfan and iron overload related to HFE H63D homozygosity can cause oxidative stress resulting in cellular injury, and the cumulative effects of these risk factors are possibly responsible for the severe hepatocellular injury in this case, making our patient the first-known case of subacute hepatic necrosis related to busulfan administration.
|
26497867 |
2015 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
In summary, we provide evidence that the complex allele HFE-c.[187C>G;340+4T>C] has a role, as genetic predisposition factor, on iron overload in the São Miguel population.
|
26501199 |
2015 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
No HFE C282Y or H63D simple heterozygotes had documented iron overload (based on hepatic iron measures or serum ferritin greater than 1000 mg/L at baseline with documented therapeutic venesection).
|
25311314 |
2015 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
This study compared hepcidin and non-transferrin bound iron (NTBI) levels in untreated iron-loaded and non-iron-loaded C282Y homozygotes to levels in C282Y/H63D compound heterozygotes and individuals with other HFE genotypes associated with less risk of iron overload.
|
25277871 |
2015 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
HFE-HH is an autosomal recessive disorder and two major genes C282Y and H63D are associated with HH (iron overload) susceptibility particularly C282Y/C282Y mutations.
|
24574363 |
2014 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
H63D homozygosity was associated with an elevated mean ferritin level, but only 6.7% had documented iron overload at follow-up.
|
24729993 |
2014 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
We analyzed data from the Hemochromatosis and Iron Overload Screening Study to assess the relationship among HFE genotype (individuals with either homozygous or compound heterozygous status for C282Y and/or H63D HFE mutations were defined as genotype positive, or G+), elevated iron phenotype (individuals exceeding gender-specific transferrin saturation and serum ferritin threshold levels were considered phenotype positive, or P+), and leukocyte telomere length, a marker of biological aging and cumulative oxidative stress.
|
23512844 |
2013 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our results suggest that H63D variant in HFE gene seems to be associated with GC risk of the non-cardia region and intestinal type, possibly due to its association with iron overload although a role for other mechanisms cannot be entirely ruled out.
|
23389292 |
2013 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Hemochromatosis gene (HFE) mutations namely C282Y and H63D may cause hepatic iron overload, thus increasing the risk of HCC in HCV patients.
|
23845776 |
2013 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
The role of compound heterozygous genetic haemochromatosis (CHGH) (C282Y/H63D) mutations in the manifestations of iron overload is known; however, the extent of these manifestations and their associated management remain unclear.
|
22957807 |
2013 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
HFE testing for the two main mutations (p.Cys282Tyr and p.His63Asp) should be performed in all patients with primary iron overload and unexplained increased transferrin saturation and/or serum ferritin values.
|
22408404 |
2012 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
A primary care-based cohort of 20,306 participants (Hemochromatosis and Iron Overload Study, Ontario site) were tested for the C282Y and H63D mutations of the HFE gene and for abnormal serum ferritin (SF) and transferrin saturation levels.
|
22228247 |
2012 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
The influence of TMPRSS6 on hepatic iron accumulation was more marked in patients negative for HFE genotypes predisposing to iron overload (p.Cys282Tyr + and p.His63Asp +/+; p = 0.01), and the p.736Val variant was negatively associated with hepatic iron accumulation independently of age, gender, HFE genotype, and beta-thalassemia trait (OR 0.59, 0.39-0.88).
|
23144979 |
2012 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Therefore, the H63D mutation may increase susceptibility to NAFLD probably associated with peripheral iron overload, especially in males.
|
20216079 |
2010 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
The frequent occurrence of beta-thalassemia trait and HFE-H63D in non-Ashkenazi Jews raises the possibility of genetic interactions contributing to iron overload when coinherited and requires further evaluation.
|
20084012 |
2010 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
The LIC in C282Y/C282Y patients was higher than in H63D/H63D patients (P = 0.26), while H63D homozygosis caused greater iron overload in PH patients than other genotypes.
|
20594259 |
2010 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
The Hemochromatosis and Iron Overload Screening study screened 101 168 participants in primary care from 5 field centers in the United States and Canada with serum ferritin, transferrin saturation, and HFE genotyping for C282Y and H63D mutations.
|
20031565 |
2009 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
The present study aimed at assessing the frequency of HFE mutations (C282Y, H63D and S65C) in western Romanian patients with liver disease of diverse aetiologies suspected of iron overload.
|
19433916 |
2009 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
The present study confirms the presence of iron overload in alcoholics, which was more severe in the subset of subjects with liver disease, in parallel with an increased frequency of H63D HFE mutation.
|
19115475 |
2009 |
|
Iron Overload
|
|
0.100 |
GeneticVariation
|
BEFREE |
Fifty-two consecutive subjects referred for evaluation of suspected iron overload (serum ferritin level >350 microg/L) were divided into 3 groups: group 1, increased transferrin saturation and no significant hemochromatosis gene product (HFE) mutations (N = 17); group 2, increased transferrin saturation and C282Y homozygosity or C282Y/H63D compound heterozygosity (N = 22); and group 3, normal transferrin saturation and no significant HFE mutations (N = 13).
|
19095082 |
2009 |