ReviewGenetics in medicine : official journal of the American College of Medical Genetics2018
Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes.
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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
38 citing papers in PubMed, 71 citations in OpenAlex.
- Maternal factors associated with iron deficiency without anaemia in early pregnancy: ECLIPSES study.Annals of hematology · 2023Trial
- Article
- The landscape of hereditary haemochromatosis risk and diagnosis across the British Isles and Ireland.Nature communications · 2026Article
- Hemochromatosis and Hepatic Complications: A Comprehensive Review of Molecular Mechanisms, Diagnostics, and Emerging Therapeutics.Current molecular medicine · 2026Review
- Article
- Risk profiling for cirrhosis and hepatocellular carcinoma in HFE hemochromatosis using mobilizable iron stores and alcohol consumption.Scientific reports · 2025Article
- Inflammatory bowel disease and hereditary hemochromatosis: A case series.JPGN reports · 2025Article
- Article
- Diagnosis and Treatment of HFEAdvances in experimental medicine and biology · 2025Review
- Emerging role of liver-bone axis in osteoporosis.Journal of orthopaedic translation · 2024Review
- Scientific opinion on the tolerable upper intake level for iron.EFSA journal. European Food Safety Authority · 2024Article
- Genetics of liver disease in adults.Hepatology communications · 2024Review
- Article
- Haemochromatosis patients' research priorities: Towards an improved quality of life.Health expectations : an international journal of public participation in health care and health policy · 2023Article
- Testing and Management of Iron Overload After Genetic Screening-Identified Hemochromatosis.JAMA network open · 2023Article
- Article
- A "Mix and Match" in Hemochromatosis-A Case Report and Literature Focus on the Liver.Medicina (Kaunas, Lithuania) · 2023Review
- Insights into Hepatocellular Carcinoma in Patients with Thalassemia: From Pathophysiology to Novel Therapies.International journal of molecular sciences · 2023Review
- Review
- Left Ventricular Function and Iron Loading Status in a Tertiary Center Hemochromatosis Cohort-A Cardiac Magnetic Resonance Study.Diagnostics (Basel, Switzerland) · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
Abstract
Iron overload (hemochromatosis) can cause serious, symptomatic disease that is preventable if detected early and managed appropriately. The leading cause of hemochromatosis in populations of predominantly European ancestry is homozygosity of the C282Y variant in the HFE gene. Screening of adults for iron overload or associated genotypes is controversial, largely because of a belief that severe phenotypes are uncommon, although cascade testing of first-degree relatives of patients is widely endorsed. We contend that severe liver disease (cirrhosis or hepatocellular cancer) is not at all uncommon among older males with hereditary hemochromatosis. Our review of the published data from a variety of empirical sources indicates that roughly 1 in 10 male HFE C282Y homozygotes is likely to develop severe liver disease during his lifetime unless iron overload is detected early and treated. New evidence from a randomized controlled trial of treatment allows for evidence-based management of presymptomatic patients. Although population screening for HFE C282Y homozygosity faces multiple barriers, a potentially effective strategy for increasing the early detection and prevention of clinical iron overload and severe disease is to include HFE C282Y homozygosity in lists of medically actionable gene variants when reporting the results of genome or exome sequencing.
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.