SynthesisJournal of hepatology2010
Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.
Synthesis in Journal of hepatology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 47 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
47 citing papers in PubMed, 2 syntheses or guidelines pooled it, 130 citations in OpenAlex.
- [Chinese guidelines for the diagnosis and treatment of hereditary hemochromatosis].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2024Guideline
- EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).European journal of human genetics : EJHG · 2016Guideline
- Inherited microcytic anemias due to disorders of iron and heme metabolism: An updated clinical review.HemaSphere · 2026Review
- Ferroportin at the Crossroads of Iron Biology: Disease, Regulation and Modulation.Biomolecules · 2026Review
- A case of mixed histiocytosis (Erdheim-Chester disease and Langerhans cell histiocytosis) with STEAP3-associated anemia and type 4 hemochromatosis.Orphanet journal of rare diseases · 2026Article
- Identification of New Key Players for Ferrous Iron Export in the Asymmetric Inner Gate of Human Ferroportin 1.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- SLC40A1-mediated positive feedback loop with M1 macrophages suppresses epithelial ovarian cancer progression.Frontiers in immunology · 2025Article
- Iron and Liver Disease.Advances in experimental medicine and biology · 2025Review
- A 70-year-old Woman with Asymptomatic Ferroportin Disease.Internal medicine (Tokyo, Japan) · 2024Article
- Iron overload due to SLC40A1 mutation of type 4 hereditary hemochromatosis.Medical molecular morphology · 2023Article
- Iron, glucose and fat metabolism and obesity: an intertwined relationship.International journal of obesity (2005) · 2023Review
- Relevant Membrane Transport Proteins as Possible Gatekeepers for Effective Pharmacological Ascorbate Treatment in Cancer.Antioxidants (Basel, Switzerland) · 2023Review
- The Spectra of Disease-Causing Mutations in the Ferroportin 1 (Human mutation · 2023Review
- Role of Iron in Aging Related Diseases.Antioxidants (Basel, Switzerland) · 2022Article
- A Bioinformatics-Assisted Review on Iron Metabolism and Immune System to Identify Potential Biomarkers of Exercise Stress-Induced Immunosuppression.Biomedicines · 2022Review
- Transcriptomics of bronchoalveolar lavage cells identifies new molecular endotypes of sarcoidosis.The European respiratory journal · 2021Article
- Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.Genes · 2021Article
- Ethnic Differences in Iron Status.Advances in nutrition (Bethesda, Md.) · 2021Review
- Mechanisms of cellular iron sensing, regulation of erythropoiesis and mitochondrial iron utilization.Seminars in hematology · 2021Review
- Long-term phlebotomy successfully alleviated hepatic iron accumulation in a ferroportin disease patient with a mutation in SLC40A1: a case report.BMC gastroenterology · 2021Article
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
7 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND &
aimsClassical ferroportin disease is characterized by hyperferritinemia, normal transferrin saturation, and iron overload in macrophages. A non-classical form is characterized by additional hepatocellular iron deposits and a high transferrin saturation. Both forms demonstrate autosomal dominant transmission and are associated with ferroportin gene (SLC40A1) mutations. SLC40A1 encodes a cellular iron exporter expressed in macrophages, enterocytes, and hepatocytes. The aim of the analysis is to determine the penetrance of SLC40A1 mutations and to evaluate in silico tools to predict the functional impairment of ferroportin mutations as an alternative to in vitro studies.
methodsWe conducted a systematic review of the literature and meta-analysis of the biochemical presentation, genetics, and pathology of ferroportin disease.
resultsOf the 176 individuals reported with SLC40A1 mutations, 80 were classified as classical phenotype with hyperferritinemia and normal transferrin saturation. The non-classical phenotype with hyperferritinemia and elevated transferrin saturation was present in 53 patients. The remaining patients had normal serum ferritin or the data were reported incompletely. Despite an increased hepatic iron concentration in all biopsied patients, significant fibrosis or cirrhosis was present in only 11%. Hyperferritinemia was present in 86% of individuals with ferroportin mutations. Bio-informatic analysis of ferroportin mutations showed that the PolyPhen score has a sensitivity of 99% and a specificity of 67% for the discrimination between ferroportin mutations and polymorphisms.
conclusionsIn contrast to HFE hemochromatosis, ferroportin disease has a high penetrance, is genetically heterogeneous and is rarely associated with fibrosis. Non-classical ferroportin disease is associated with a higher risk of fibrosis and a more severe overload of hepatic iron.
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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.