ReviewAnnals of translational medicine2021
Revisiting hemochromatosis: genetic
Review in Annals of translational medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses 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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 2 syntheses or guidelines pooled it, 58 citations in OpenAlex.
- The role of genetically predicted serum iron levels on neurodegenerative and cardiovascular traits.Scientific reports · 2024Pooled it
- Clinical practice guidelines on hemochromatosis: Asian Pacific Association for the Study of the Liver.Hepatology international · 2023Guideline
- Cuproptosis in iron overload hepatocytes.Cell death & disease · 2026Article
- Comparing the types of haemochromatosis- from genetics to clinics.European journal of human genetics : EJHG · 2026Review
- Iron: More than Meets the Eye.Nutrients · 2025Review
- Zebrafish navigating the metabolic maze: insights into human disease - assets, challenges and future implications.Journal of diabetes and metabolic disorders · 2025Review
- HFE-Related Hemochromatosis May Be a Primary Kupffer Cell Disease.Biomedicines · 2025Review
- Hepatic immune regulation and sex disparities.Nature reviews. Gastroenterology & hepatology · 2024Review
- Effects of Iron, Copper, Zinc, and Magnesium on Chronic Widespread Pain: A Two-Sample Mendelian Randomization.Journal of clinical medicine · 2024Article
- Hemochromatosis-How Not to Overlook and Properly Manage "Iron People"-A Review.Journal of clinical medicine · 2024Review
- Morbidities and mortality among hospitalized patients with hypopituitarism: Prevalence, causes and management.Reviews in endocrine & metabolic disorders · 2024Review
- A brief communication of patients with homozygous C282Y mutation-related hereditary hemochromatosis.Hepatology forum · 2024Article
- Case Reports in the Past, Present and Future.European journal of case reports in internal medicine · 2024Article
- The IRONy in Athletic Performance.Nutrients · 2023Review
- Article
- The ancestral haplotype markers HLA -A3 and B7 do not influence the likelihood of advanced hepatic fibrosis or cirrhosis in HFE hemochromatosis.Scientific reports · 2023Article
- Low-temperature Mössbauer spectroscopy of organs fromJournal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry · 2023Article
- Association between Polymorphisms of Hemochromatosis (HFE), Blood Lead (Pb) Levels, and DNA Oxidative Damage in Battery Workers.International journal of environmental research and public health · 2023Article
- Hepcidin and Iron in Health and Disease.Annual review of medicine · 2023Review
- Novel homozygote variant in the HJV gene leading to juvenile hemochromatosis: a case report.Gastroenterology and hepatology from bed to bench · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Iron overload disorders represent an important class of human diseases. Of the primary iron overload conditions, by far the most common and best studied is HFE-related hemochromatosis, which results from homozygosity for a mutation leading to the C282Y substitution in the HFE protein. This disease is characterized by reduced expression of the iron-regulatory hormone hepcidin, leading to increased dietary iron absorption and iron deposition in multiple tissues including the liver, pancreas, joints, heart and pituitary. The phenotype of HFE-related hemochromatosis is quite variable, with some individuals showing little or no evidence of increased body iron, yet others showing severe iron loading, tissue damage and clinical sequelae. The majority of genetically predisposed individuals show at least some evidence of iron loading (increased transferrin saturation and serum ferritin), but a minority show clinical symptoms and severe consequences are rare. Thus, the disorder has a high biochemical penetrance, but a low clinical prevalence. Nevertheless, it is such a common condition in Caucasian populations (1:100-200) that it remains an important clinical entity. The phenotypic variability can largely be explained by a range of environmental, genetic and physiological factors. Men are far more likely to manifest significant disease than women, with the latter losing iron through menstrual blood loss and childbirth. Other forms of blood loss, immune system influences, the amount of bioavailable iron in the diet and lifestyle factors such as high alcohol intake can also contribute to iron loading and disease expression. Polymorphisms in a range of genes have been linked to variations in body iron levels, both in the general population and in hemochromatosis. Some of the genes identified play well known roles in iron homeostasis, yet others are novel. Other factors, including both co-morbidities and genetic polymorphisms, do not affect iron levels
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Registered trials
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