Hereditary hemochromatosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
3) Don't order HFE genotyping based on serum ferritin values alone to diagnose hereditary hemochromatosis.
|
31113586 |
2020 |
Hereditary hemochromatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Three loss-of-function mutations in the hemochromatosis gene (HFE), namely, C282Y (c.845G>A), H63D (c.187C>G), and S65C (c.193A>T), account for the vast majority of HH cases.
|
30339210 |
2019 |
Hereditary hemochromatosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Hemochromatosis: Hereditary hemochromatosis and HFE gene.
|
30798813 |
2019 |
Hereditary hemochromatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The 2 HFE variants account for ∼85% of all cases of hereditary haemochromatosis.
|
31226389 |
2019 |
Hereditary hemochromatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genetic hemochromatosis is mainly related to the homozygous p.Cys282Tyr (C282Y) mutation in the HFE gene, which causes hepcidin deficiency.
|
30244162 |
2019 |
Hereditary hemochromatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The most common cause of hereditary hemochromatosis is a C282Y mutation in the HFE gene.
|
31582009 |
2019 |
Hereditary hemochromatosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
However, because of the rarity and difficulty in making the genetic diagnosis, a large proportion of patients with non-HFE HH might have been undiagnosed; therefore, awareness of this disorder is important.
|
29134618 |
2018 |
Hereditary hemochromatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although the relationship between hereditary hemochromatosis and mutations in the HFE gene was discovered more than 20 years ago, information on the in vivo regulation of HFE protein expression is still limited.
|
29927322 |
2018 |
Hereditary hemochromatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes.
|
28771247 |
2018 |
Hereditary hemochromatosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Non-HFE HH can be associated with mutations in HJV, HAMP, TFR2 and SLC40A1 genes.
|
30195625 |
2018 |
Hereditary hemochromatosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
- Our "one-button" order that restricts HFE genetic tests to patients with transferrin saturation greater than 45% is consistent with published practice guidelines and detected 100% of new patients with HFE-related hereditary hemochromatosis.
|
28981372 |
2018 |
Hereditary hemochromatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
All clinical outcomes analyzed were more prevalent in the juvenile forms of HH, with the exception of arthritis and arthropathy, which were more commonly seen in HFE HH.
|
29743178 |
2018 |
Hereditary hemochromatosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Hereditary hemochromatosis can be divided into HFE- and non-HFE-related based on genetic mutations in different genes.
|
28930842 |
2017 |
Hereditary hemochromatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the <i>HFE</i> (hemochromatosis) gene cause hereditary hemochromatosis, an iron overload disorder that is hallmarked by excessive accumulation of iron in parenchymal organs.
|
28280078 |
2017 |
Hereditary hemochromatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hyperferritinemia increases the risk of hyperuricemia in HFE-hereditary hemochromatosis.
|
27659401 |
2017 |
Hereditary hemochromatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The population also contain individuals with the Swedish long QT syndrome (LQTS1) founder mutation (<i>KCNQ1</i>/p.Y111C) which in homozygotes causes the Jervell & Lange Nielsen syndrome (JLNS) and hearing loss (HL).Aims of the study were to test whether the Swedish long QT founder mutation originated in an ancestral HFE family and if carriers had an increased risk for hemochromatosis (HH), a treatable disorder.
|
29270100 |
2017 |
Hereditary hemochromatosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Genetic disruption of NRF2 promotes the development of necroinflammation and liver fibrosis in a mouse model of HFE-hereditary hemochromatosis.
|
27936457 |
2017 |
Hereditary hemochromatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The iron overload disorder hereditary haemochromatosis is most commonly caused by HFE p.Cys282Tyr homozygosity.
|
29195602 |
2017 |
Hereditary hemochromatosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
R2*-relaxometry of the pancreas in patients with human hemochromatosis protein associated hereditary hemochromatosis.
|
28267532 |
2017 |
Hereditary hemochromatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
For HH, WGS identified a known disease variant (p.C282Y) in HFE of an affected female.
|
28228131 |
2017 |
Hereditary hemochromatosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
The HFE molecule controls iron uptake from gut, and defects in the molecule have been associated with iron overload, particularly in hereditary hemochromatosis.
|
28727322 |
2017 |
Hereditary hemochromatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The most common type of hereditary hemochromatosis is caused by HFE gene mutation.
|
28406842 |
2017 |
Hereditary hemochromatosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Severe periodontitis is associated with the severity of iron burden in patients with HFE-related hereditary haemochromatosis.
|
28586532 |
2017 |
Hereditary hemochromatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hereditary Hemochromatosis (HH) is a genetically heterogeneous disorder caused by mutations in at least five different genes (HFE, HJV, TFR2, SLC40A1, HAMP) involved in the production or activity of the liver hormone hepcidin, a key regulator of systemic iron homeostasis.
|
28335084 |
2017 |
Hereditary hemochromatosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
In patients with a combination of elevated TSAT and ferritin in the absence of anaemia, and after exclusion of HFE-related HH, rare forms of HH should be considered.
|
28276324 |
2017 |