ReviewNature reviews. Gastroenterology & hepatology2010
Genetic mechanisms and modifying factors in hereditary hemochromatosis.
Review in Nature reviews. Gastroenterology & hepatology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 79 citations in OpenAlex.
- Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.Human molecular genetics · 2011Pooled it
- One Clinical Picture, Two Clinical Entities: A Case Report and Literature Review of Neurofibromatosis and Hemochromatosis.Children (Basel, Switzerland) · 2026Article
- Variance quantitative trait loci reveal gene-gene interactions which alter blood traits.medRxiv : the preprint server for health sciences · 2024Article
- HFE Mutations in Neurodegenerative Disease as a Model of Hormesis.International journal of molecular sciences · 2024Review
- 1.5-T MR relaxometry in quantifying splenic and pancreatic iron: retrospective comparison of a commercial 3D-Dixon sequence and an established 2D multi-gradient echo sequence.European radiology · 2023Article
- Left Ventricular Function and Iron Loading Status in a Tertiary Center Hemochromatosis Cohort-A Cardiac Magnetic Resonance Study.Diagnostics (Basel, Switzerland) · 2022Article
- Genetic effects of iron levels on liver injury and risk of liver diseases: A two-sample Mendelian randomization analysis.Frontiers in nutrition · 2022Article
- Cell-specific expression ofHaematologica · 2021Article
- Dietary Iron Overload andAntioxidants (Basel, Switzerland) · 2021Article
- Current Understanding of the Relationship between Blood Donor Variability and Blood Component Quality.International journal of molecular sciences · 2021Review
- Revisiting hemochromatosis: geneticAnnals of translational medicine · 2021Review
- The Proteomics Study of Compounded HFE/TF/TfR2/HJV Genetic Variations in a Thai Family with Iron Overload, Chronic Anemia, and Motor Neuron Disorder.Journal of molecular neuroscience : MN · 2021Article
- Gnpat does not play an essential role in systemic iron homeostasis in murine model.Journal of cellular and molecular medicine · 2020Article
- The Role of Iron Regulation in Immunometabolism and Immune-Related Disease.Frontiers in molecular biosciences · 2019Review
- Article
- "Pumping iron"-how macrophages handle iron at the systemic, microenvironmental, and cellular levels.Pflugers Archiv : European journal of physiology · 2017Review
- Genetic and Dietary Iron Overload Differentially Affect the Course ofFrontiers in cellular and infection microbiology · 2017Article
- Disposal of iron by a mutant form of lipocalin 2.Nature communications · 2016Article
- Iron Together with Lipid Downregulates Protein Levels of Ceruloplasmin in Macrophages Associated with Rapid Foam Cell Formation.Journal of atherosclerosis and thrombosis · 2016Article
- Associations between Common Variants in Iron-Related Genes with Haematological Traits in Populations of African Ancestry.PloS one · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary iron overload is one of the most common inherited diseases worldwide. Several genetic mutations underlie the various forms of the disease, which have similar pathophysiological profiles but distinct clinical presentations. Patients with hereditary hemochromatosis absorb too much iron from the diet, which accumulates over time within parenchymal cells. This accumulation leads to eventual organ failure as a consequence of iron-mediated formation of free radicals. The mechanism underlying this excessive absorption of iron is a sensing defect caused by the reduced formation of hepcidin, the master regulator of iron homeostasis, as a consequence of mutations in the genes encoding several membrane-bound signaling molecules present on hepatocytes. A considerable number of carriers of these specific genetic mutations, however, do not develop iron overload, indicating that additional genetic and environmental factors modify the severity and clinical penetrance of disease. In affected patients, early initiation of treatment by phlebotomy can prevent organ damage. Genetic screening of first-degree relatives can be also used to identify individuals at risk. Our expanding knowledge of the regulation of iron metabolism and the role of factors that modify the severity of the disease may lead to the design of new and improved treatments.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.