ReviewHaematologica2013
Iron refractory iron deficiency anemia.
Review in Haematologica, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 4 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
65 citing papers in PubMed, 4 syntheses or guidelines pooled it, 172 citations in OpenAlex.
- The role of TMPRSS6 gene polymorphism in iron resistance iron deficiency anaemia (IRIDA): a systematic review.Annals of hematology · 2024Pooled it
- Guideline
- Pooled it
- Replication and Characterization of Association between ABO SNPs and Red Blood Cell Traits by Meta-Analysis in Europeans.PloS one · 2016Pooled it
- Iron metabolism and ferroptosis in human health and disease.BMC biology · 2025Review
- Therapeutic targeting of the hepcidin-ferroportin axis and erythropoietic modulators: a narrative review.Frontiers in medicine · 2025Review
- Iron Absorption: Molecular and Pathophysiological Aspects.Metabolites · 2024Review
- The association of TMPRSS6 gene polymorphism with iron status in Egyptian children (a pilot study).BMC pediatrics · 2024Article
- Iron-related Biomarkers in the Diagnosis and Management of Iron Disorders.Current medicinal chemistry · 2024Review
- Review
- Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities.Molecular genetics and metabolism · 2023Review
- Interpreting Iron Homeostasis in Congenital and Acquired Disorders.Pharmaceuticals (Basel, Switzerland) · 2023Review
- The Incidence and Risk Factors for Allogeneic Blood Transfusions in Pediatric Spine Surgery: National Data.Healthcare (Basel, Switzerland) · 2023Article
- The global prevalence and ethnic heterogeneity of iron-refractory iron deficiency anaemia.Orphanet journal of rare diseases · 2023Article
- Chronic Fatigue Syndrome in Patients with Deteriorated Iron Metabolism.Diagnostics (Basel, Switzerland) · 2022Review
- The mutual crosstalk between iron and erythropoiesis.International journal of hematology · 2022Review
- IRIDA Phenotype inGenes · 2022Article
- Extremes of Anemia: The Lowest Hemoglobin Values Probably Ever Reported in the Pediatric Literature Attributed to Iron Deficiency Anemia.The American journal of case reports · 2022Article
- Iron Mining for Erythropoiesis.International journal of molecular sciences · 2022Review
- Transferrin Saturation/Hepcidin Ratio DiscriminatesInternational journal of molecular sciences · 2022Article
5 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Iron refractory iron deficiency anemia is a hereditary recessive anemia due to a defect in the TMPRSS6 gene encoding Matriptase-2. This protein is a transmembrane serine protease that plays an essential role in down-regulating hepcidin, the key regulator of iron homeostasis. Hallmarks of this disease are microcytic hypochromic anemia, low transferrin saturation and normal/high serum hepcidin values. The anemia appears in the post-natal period, although in some cases it is only diagnosed in adulthood. The disease is refractory to oral iron treatment but shows a slow response to intravenous iron injections and partial correction of the anemia. To date, 40 different Matriptase-2 mutations have been reported, affecting all the functional domains of the large ectodomain of the protein. In vitro experiments on transfected cells suggest that Matriptase-2 cleaves Hemojuvelin, a major regulator of hepcidin expression and that this function is altered in this genetic form of anemia. In contrast to the low/undetectable hepcidin levels observed in acquired iron deficiency, in patients with Matriptase-2 deficiency, serum hepcidin is inappropriately high for the low iron status and accounts for the absent/delayed response to oral iron treatment. A challenge for the clinicians and pediatricians is the recognition of the disorder among iron deficiency and other microcytic anemias commonly found in pediatric patients. The current treatment of iron refractory iron deficiency anemia is based on parenteral iron administration; in the future, manipulation of the hepcidin pathway with the aim of suppressing it might become an alternative therapeutic approach.
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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.