Haemochromatosis

@article{Powell2016Haemochromatosis,
  title={Haemochromatosis},
  author={Lawrie W. Powell and Rebecca Seckington and Yves Deugnier},
  journal={The Lancet},
  year={2016},
  volume={388},
  pages={706-716}
}
View on Elsevier
usahealthsystem.com
64 Citations
Highly Influential Citations
1
Background Citations
5

Figures from this paper

64 Citations

Hereditary Hemochromatosis: New Guidelines and Implications for Primary Care
Juvenile hemochromatosis with multi-organ involvement diagnosed at autopsy.
Eryptosis in Haemochromatosis: Implications for rheology.
BACKGROUND Haemochromatosis is an iron-storage disease with different genetic mutations, characterized by an increased intestinal absorption of iron, resulting in a deposition of excessive amounts of…
Ferroportin Disease Caused by a Heterozygous Variant p.Cys326Phe in the SLC40A1 Gene and the Efficacy of Therapeutic Phlebotomy in Children.
TLDR
Young female patient with ferroportin disease is described, which was confirmed from excess iron deposition within hepatocytes and by identifying a heterozygous variant p.Cys326Phe in SLC40A1.
ACG Clinical Guideline: Hereditary Hemochromatosis.
TLDR
Serum ferritin of <1,000 ng/mL at diagnosis remains an important diagnostic test to identify patients with a low risk of advanced hepatic fibrosis and should be used routinely as part of the initial diagnostic evaluation.
Genetic Diagnosis in Hereditary Hemochromatosis: Discovering and Understanding the Biological Relevance of Variants.
TLDR
This review addresses methods and developments regarding the discovery and classification of genetic variants, from in silico tools to in vitro and in vivo models, and presents them in the context of Hereditary hemochromatosis.
Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease.
TLDR
This is the first comprehensive analysis comparing the different phenotypic and clinical aspects of the genetic forms of HH, and the results will be valuable for the differential diagnosis and management of these conditions.
Phenotyping rare hepcidin deficiency.
TLDR
This study describes the rare forms of hereditary hemochromatosis that will help interpret results through genotype-phenotype correlations and foster the search for genes involved in the still unexplained forms of non- HFE hemochROMatosis.
Metabolic iron disorder after liver transplant: Hereditary hemochromatosis in a pediatric recipient of a pediatric donor with unknown HFE C282Y homozygous mutation.
Treatment of iron overload syndrome: a general review.
TLDR
Advances in the understanding of iron overload have lead to great advances in therapies and new pharmacological targets, which has lead to better compliance with the use of oral chelators and less toxic drugs.
...
...

References

SHOWING 1-10 OF 109 REFERENCES
Clinical aspects of hemochromatosis.
TLDR
The available evidence from screening studies strongly suggests that approximately 75% of C282Y homozygous subjects have biochemical expression, and hemochromatosis is being detected at increasingly early stages, often when there are only biochemical abnormalities.
The penetrance of hereditary hemochromatosis.
Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights.
Modifying factors of the HFE hemochromatosis phenotype
TLDR
Better identification of acquired and genetic modifiers of iron burden and iron-related organ damage is needed to improve the preventive, diagnostic and therapeutic management of HFE hemochromatosis.
Hereditary hemochromatosis in the post‐HFE era
TLDR
This article provides an update of recent developments and key issues relating to iron homeostasis and inherited disorders of iron overload, with emphasis on HFE‐related HH.
Current approach to hemochromatosis.
Hemochromatosis in Italy in the last 30 years: Role of genetic and acquired factors
TLDR
Patients with HFE and non‐HFE‐related iron overload have comparable iron overload and similar clinical history, and patients who were diagnosed during the last 10 years have less severe disease and lower prevalence of acquired risk factors, independent of genetic background.
Down-regulation of hepcidin in porphyria cutanea tarda.
TLDR
Hepatic HAMP expression was significantly reduced, regardless of HFE genotype, when compared with patients with hh but without PCT with comparable iron overload, indicating that the hepatic siderosis associated with PCT likely results from dysregulated HAMP.
Synopsis of the Dutch multidisciplinary guideline for the diagnosis and treatment of hereditary haemochromatosis.
Hereditary haemochromatosis (HH) is a disease related to mutations in the HFE gene and can lead to progressive iron accumulation, especially in the liver, eventually resulting in organ damage. We…
Screening for hemochromatosis in asymptomatic subjects with or without a family history.
TLDR
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.
...
...