The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency
Open accessAbstract
TO THE EDITOR: Iron-refractory iron deficiency anemia (IRIDA) is characterized by congenital iron deficiency (ID) that is poorly responsive to oral iron treatment. Biallelic mutations in TMPRSS6 are found in most patients with IRIDA.[1][1] TMPRSS6 negatively regulates synthesis of the iron
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Other useful markers are the level of serum soluble transferrin receptor (sTFRC), related to the expansion of erythropoiesis or iron deficiency, the sTFRC/log ferritin ratio for the diagnosis of iron deficiency in inflammation and the Tsat/log hepcidin ratio to suspect IRIDA.
“Other useful markers are the level of serum soluble transferrin receptor (sTFRC), related to the expansion of erythropoiesis or iron deficiency, the sTFRC/log ferritin ratio for the diagnosis of iron deficiency in inflammation98 and the Tsat/log hepcidin ratio to suspect IRIDA.111”
From Iron metabolism and iron disorders revisited in the hepcidin era (2020) · cites this paper as [111]
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Hepcidin in the diagnosis of iron disorders
Girelli, D., Nemeth, E., & Swinkels, D. W. (2016) · Blood · doi:10.1182/blood-2015-12-639112 · Cited by 417
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Research works printed but not linked: 5
- Finberg, 2008, Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA), Nat Genet, 40, 569, 10.1038/ng.130 · DOI · Paper page
- Du, 2008, The serine protease TMPRSS6 is required to sense iron deficiency, Science, 320, 1088, 10.1126/science.1157121 · DOI · Paper page
- Ganz, 2008, Immunoassay for human serum hepcidin, Blood, 112, 4292, 10.1182/blood-2008-02-139915 · DOI · Paper page
- De Falco, 2014, Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies, Hum Mutat, 35, 1321
- Donker, 2016, Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory, Am J Hematol, 91, E482, 10.1002/ajh.24561 · DOI
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Iron metabolism and iron disorders revisited in the hepcidin era
Camaschella, C., Nai, A., & Silvestri, L. (2020) · Haematologica · doi:10.3324/haematol.2019.232124 · Cited by 734
Metadata
- Authors
- Heeney, M. M., Guo, D., De Falco, L., Campagna, D. R., Olbina, G., Kao, P. P.-C., Schmitz-Abe, K., Rahimov, F., Gutschow, P., Westerman, K., Ostland, V., Jackson, T., Klaassen, R. J., Markianos, K., Finberg, K. E., Iolascon, A., Westerman, M., London, W. B., & Fleming, M. D.
- Affiliations
- Boston Children's Hospital (US)
- Harvard University (US)
- Department of Molecular Medicine and Medical Biotechnologies, Federico II University Medical School, Naples, Italy;
- Intrinsic LifeSciences (United States) (US)
- Division of Newborn Medicine, and
- Children's Hospital of Eastern Ontario (CA)
- Yale University (US)
- Federico II University Hospital (IT)
- ORCID
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2018-07-26
- Volume
- 132
- Issue
- 4
- Pages
- 448-452
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- PMC
- PMC6071554
- OpenAlex
- W2808201717
- Cited by
- 25
- References
- 1
- Citations by year
- 2026: 4 · 2025: 3 · 2024: 2 · 2023: 1 · 2022: 3 · 2021: 3 · 2020: 5 · 2019: 4
- FWCI
- 2.15
- Type
- journal article
- Language
- en
- Update notices
- erratum (2018-09-20)
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Blood (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Heart, Lung, and Blood Institute (K12HL087164)
- National Institute of Diabetes and Digestive and Kidney Diseases (R44DK083843)
- Topics
- Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Health Sciences › Medicine › Genetics (clinical) › Hemoglobinopathies and Related Disorders
- Keywords
- hepcidin, iron-refractory iron deficiency anemia, iron deficiency anemia, iron metabolism, oral iron supplementation
- MeSH terms
- Adult, Humans, Iron, Membrane Proteins, Middle Aged, Mutation, Prognosis, Serine Endopeptidases, Anemia, Iron-Deficiency, Hepcidins
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