ArticleCanadian journal of gastroenterology = Journal canadien de gastroenterologie2008
Clinical manifestations of hemochromatosis in HFE C282Y homozygotes identified by screening.
Article in Canadian journal of gastroenterology = Journal canadien de gastroenterologie, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.
- A systematic review of the association between fatigue and genetic polymorphisms.Brain, behavior, and immunity · 2017Pooled it
- Trial
- Mean Corpuscular Volume inJournal of hematology · 2026Article
- Comparisons of iron phenotypes and reports of menses, pregnancies, and live births in women withmedRxiv : the preprint server for health sciences · 2026Article
- Clinical and imaging features of haemochromatosis arthropathy: a systematic literature review and meta-analysis to inform the development of EULAR classification criteria.EULAR rheumatology open · 2025Article
- Serum Ferritin in Women WithEJHaem · 2025Article
- Factors related to mean corpuscular volume inEJHaem · 2025Article
- Population Screening for Hereditary Haemochromatosis-Should It Be Carried Out, and If So, How?Genes · 2024Article
- The Genetic Diagnostics of Hemochromatosis: Disparities in Low- Versus High-Income Countries.Cureus · 2024Review
- Hemochromatosis-How Not to Overlook and Properly Manage "Iron People"-A Review.Journal of clinical medicine · 2024Review
- HLA-A*03, the hemochromatosis ancestral haplotype, and phenotypes of referred hemochromatosis probands with HFE p.C282Y homozygosity.Hereditas · 2022Article
- Article
- Survival and development of health conditions after iron depletion therapy in C282Y-linked hemochromatosis patients.Canadian liver journal · 2021Article
- Review
- Insulin Resistance and Metabolic Syndrome: Clinical and Laboratory Associations in African Americans Without Diabetes in the Hemochromatosis and Iron Overload Screening Study.Metabolic syndrome and related disorders · 2018Article
- Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Review
- Population Screening for Hereditary Haemochromatosis in Australia: Construction and Validation of a State-Transition Cost-Effectiveness Model.PharmacoEconomics - open · 2017Article
- GNPAT p.D519G is independently associated with markedly increased iron stores in HFE p.C282Y homozygotes.Blood cells, molecules & diseases · 2017Article
- Diabetes inJournal of diabetes research · 2017Review
- Risk Factors for Insulin Resistance, Metabolic Syndrome, and Diabetes in 248 HFE C282Y Homozygotes Identified by Population Screening in the HEIRS Study.Metabolic syndrome and related disorders · 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
15 authors at 8 institutions in 2 countries.
Funding
Abstract
backgroundPatients with hemochromatosis may suffer organ damage from iron overload, often with serious clinical consequences.
objectiveTo assess prevalences of self-reported symptoms and clinical signs and conditions in persons homozygous for the hemochromatosis gene (HFE) mutation (C282Y) identified by screening.
methodsParticipants were adults 25 years of age or older enrolled in the Hemochromatosis and Iron Overload Screening (HEIRS) Study. C282Y homozygotes (n=282) were compared with control participants without the HFE C282Y or H63D alleles (ie, wild type/wild type; n=364).
resultsPreviously diagnosed C282Y homozygotes and newly diagnosed homozygotes with elevated serum ferritin levels had higher prevalences of certain symptoms such as chronic fatigue (OR 2.8; 95% CI 1.34 to 5.95, and OR 2.0; 95% CI 1.07 to 3.75, respectively), and had more hyperpigmentation on physical examination (OR 4.7; 95% CI 1.50 to 15.06, and OR 3.7; 95% CI 1.10 to 12.16, respectively) and swelling or tenderness of the second and third metacarpophalangeal joints (OR 4.2; 95% CI 1.37 to 13.03, and OR 3.3; 95% CI 1.17 to 9.49, respectively) than control subjects. Joint stiffness was also more common among newly diagnosed C282Y homozygotes with elevated serum ferritin than among control subjects (OR 2.7; 95% CI 1.38 to 5.30). However, the sex- and age-adjusted prevalences of self-reported symptoms and signs of liver disease, heart disease, diabetes and most other major clinical manifestations of hemochromatosis were similar in C282Y homozygotes and control subjects.
conclusionsSome symptoms and conditions associated with hemochromatosis were more prevalent among C282Y homozygotes identified by screening than among control subjects, but prevalences of most outcomes were similar in C282Y homozygotes and controls in this primary care-based study.
Indexed as
Identifiers
What OpenQuestion holds
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.