ArticleBlood2022
Hemochromatosis classification: update and recommendations by the BIOIRON Society.
Article in Blood, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers, 3 of them syntheses that pooled it.
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92 citing papers in PubMed, 3 syntheses or guidelines pooled it, 168 citations in OpenAlex.
- Effects of coronavirus disease 2019 on the incidence, mortality, and prognosis of ischemic stroke: a systematic review and meta-analysis.Frontiers in neurology · 2025Pooled it
- [Chinese guidelines for the diagnosis and treatment of hereditary hemochromatosis].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2024Guideline
- Clinical practice guidelines on hemochromatosis: Asian Pacific Association for the Study of the Liver.Hepatology international · 2023Guideline
- One Clinical Picture, Two Clinical Entities: A Case Report and Literature Review of Neurofibromatosis and Hemochromatosis.Children (Basel, Switzerland) · 2026Article
- Article
- Iron as a Key Mediator of Chronic Joint Damage: Insights from Hemophilic Arthropathy and Implications for Osteoarthritis.Medicina (Kaunas, Lithuania) · 2026Review
- A rare large homozygous deletion of the HFE gene in a patient with hemochromatosis: a case report.Hematology, transfusion and cell therapy · 2026Article
- Hyperferritinemia: Pathophysiology, Etiologies, and Diagnostic Approach.European journal of haematology · 2026Review
- Iron Overload: Pathophysiology, Diagnosis and Monitoring.International journal of laboratory hematology · 2026Review
- Comparing the types of haemochromatosis- from genetics to clinics.European journal of human genetics : EJHG · 2026Review
- Ferroportin at the Crossroads of Iron Biology: Disease, Regulation and Modulation.Biomolecules · 2026Review
- Hepcidin as a Molecular Hub of Iron Homeostasis: From BMP-SMAD Signaling to Therapeutic Modulation.Biomolecules · 2026Review
- Loss of Hfe impairs hematopoietic stem and progenitor cell function.Blood. Red cells & iron · 2026Article
- Haemochromatosis - a modern clinician's guide.Internal medicine journal · 2026Review
- Osteoarthritis and analgesic consumption in haemochromatosis HFE C282Y homozygotes with normal or low iron parameters.Nature communications · 2026Article
- Patient Insights into and Satisfaction with Treatment, Management, and Clinical Research of Hereditary Hemochromatosis.Therapeutic innovation & regulatory science · 2026Article
- A Decreasing North-to-South Gradient ofGenes · 2026Article
- Mean Corpuscular Volume inJournal of hematology · 2026Article
- Article
- Comparisons of iron phenotypes and reports of menses, pregnancies, and live births in women withmedRxiv : the preprint server for health sciences · 2026Article
32 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors at 5 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hemochromatosis (HC) is a genetically heterogeneous disorder in which uncontrolled intestinal iron absorption may lead to progressive iron overload (IO) responsible for disabling and life-threatening complications such as arthritis, diabetes, heart failure, hepatic cirrhosis, and hepatocellular carcinoma. The recent advances in the knowledge of pathophysiology and molecular basis of iron metabolism have highlighted that HC is caused by mutations in at least 5 genes, resulting in insufficient hepcidin production or, rarely, resistance to hepcidin action. This has led to an HC classification based on different molecular subtypes, mainly reflecting successive gene discovery. This scheme was difficult to adopt in clinical practice and therefore needs revision. Here we present recommendations for unambiguous HC classification developed by a working group of the International Society for the Study of Iron in Biology and Medicine (BIOIRON Society), including both clinicians and basic scientists during a meeting in Heidelberg, Germany. We propose to deemphasize the use of the molecular subtype criteria in favor of a classification addressing both clinical issues and molecular complexity. Ferroportin disease (former type 4a) has been excluded because of its distinct phenotype. The novel classification aims to be of practical help whenever a detailed molecular characterization of HC is not readily available.
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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.