2025
Iron Deficiency Anemia
Li X, Finberg K. Iron Deficiency Anemia. Advances In Experimental Medicine And Biology 2025, 1480: 163-178. PMID: 40603791, DOI: 10.1007/978-3-031-92033-2_12.Peer-Reviewed Original ResearchConceptsIron deficiency anemiaIron deficiencyCellular iron handlingIron regulatory hormone hepcidinImpaired iron absorptionParenteral iron supplementationInadequate iron intakeChronic blood lossIncreased iron requirementsIntravenous iron formulationsSecondary to suppressionReproductive-age womenManagement of IDSystemic iron regulationAbsolute IDBlood lossDosing regimensDeficiency anemiaIron intakeIron formulationsIron supplementationLaboratory diagnosisInflammatory conditionsHormone hepcidinIron handlingA TMPRSS6-inhibiting mAb improves disease in a β-thalassemia mouse model and reduces iron in healthy humans
Lob H, Singh N, Mohammadi K, Ivanova L, Crowell B, Kim H, Kravets L, Das N, Ray Y, Kim J, Rottey S, Labriola-Tompkins E, Hassan H, Farrelly L, Chin H, Preda M, Noakes L, Saotome K, Franklin M, Retter M, Karayusuf E, Flanagan J, Olson W, Nannuru K, Idone V, Burczynski M, Harari O, Perlee L, Van Lancker G, Murphy A, Economides A, Hatsell S. A TMPRSS6-inhibiting mAb improves disease in a β-thalassemia mouse model and reduces iron in healthy humans. JCI Insight 2025, 10: e191813. PMID: 40548380, PMCID: PMC12220967, DOI: 10.1172/jci.insight.191813.Peer-Reviewed Original ResearchConceptsB-thalassemiaIneffective erythropoiesisIron overloadIron-refractory iron deficiency anemiaTransmembrane serine protease 6Placebo-controlled studyIron deficiency anemiaHealthy human volunteersNegative regulatorLoss-of-function mutationsHepatic hepcidin expressionTMPRSS6 geneTolerability profileSerum hepcidinHuman mAbsHepcidin levelsImpaired erythropoiesisSerum ironBone densityCardiac diseaseLiver fibrosisMouse modelB-globin geneHepcidin expressionHormone hepcidin
2021
12 Iron Metabolism and Related Disorders
Ginzburg Y, Finberg K. 12 Iron Metabolism and Related Disorders. 2021, 445-499. DOI: 10.1016/b978-0-12-812535-9.00012-1.ChaptersGene productsNumerous fundamental biological processesFundamental biological processesIron metabolismGenetic defectsSystemic iron balanceSystemic iron regulationMolecular geneticsBiological processesIron regulationIron-refractory iron deficiency anemiaIron homeostasisIron availabilityFriedreich's ataxiaIron movementMajor genetic disordersErythroid precursorsGenetic disordersIron regulatory hormone hepcidinSideroblastic anemiaMetabolismGenetic formsMutationsKey roleHormone hepcidin
2019
Hepcidin-guided screen-and-treat interventions against iron-deficiency anaemia in pregnancy: a randomised controlled trial in The Gambia
Bah A, Muhammad A, Wegmuller R, Verhoef H, Goheen M, Sanyang S, Danso E, Sise E, Pasricha S, Armitage A, Drakesmith H, Cross J, Moore S, Cerami C, Prentice A. Hepcidin-guided screen-and-treat interventions against iron-deficiency anaemia in pregnancy: a randomised controlled trial in The Gambia. The Lancet Global Health 2019, 7: e1564-e1574. PMID: 31607468, PMCID: PMC7109523, DOI: 10.1016/s2214-109x(19)30393-6.Peer-Reviewed Original ResearchConceptsWHO-recommended regimenScreen-and-treat approachPer-protocol populationIron deficiency anemiaNon-inferiority marginPregnant womenSide effectsPrimary outcomeAmount of hemoglobinIron regulatory hormone hepcidinWeeks of gestationFrequent side effectsDaily iron supplementationStages of gestationNon-inferiority trialCombat iron deficiency anemiaDouble-blindRandomised controlled trialsIron administrationAdverse eventsIron supplementationFollow-upRegimenHormone hepcidinSafety outcomes
2010
Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis
Finberg KE, Whittlesey RL, Fleming MD, Andrews NC. Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis. Blood 2010, 115: 3817-3826. PMID: 20200349, PMCID: PMC2865872, DOI: 10.1182/blood-2009-05-224808.Peer-Reviewed Original ResearchMeSH KeywordsAnemia, Iron-DeficiencyAnimalsAntimicrobial Cationic PeptidesBlotting, WesternBone Morphogenetic ProteinsDown-RegulationFemaleGPI-Linked ProteinsHemochromatosis ProteinHepatocytesHepcidinsHomeostasisInhibitor of Differentiation Protein 1IronLiverMembrane ProteinsMiceMice, Inbred C57BLMice, KnockoutReverse Transcriptase Polymerase Chain ReactionRNA, MessengerSerine EndopeptidasesSignal TransductionSmad ProteinsConceptsIron deficiency anemiaSystemic iron homeostasisHepcidin expressionSmad signalingIntravenous iron therapyOral iron treatmentSystemic iron overloadIron regulatory hormone hepcidinBMP/Smad signalingBmp6 mRNA levelsSmad Signaling PathwayIron homeostasisIron therapyIron storesDeficiency anemiaIron overloadHepatic levelsType II transmembrane serine proteaseIRIDA patientsTransmembrane serine proteaseFamilial disorderHormone hepcidinIron treatmentHepcidin transcriptionMice
2008
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)
Finberg KE, Heeney MM, Campagna DR, Aydınok Y, Pearson HA, Hartman KR, Mayo MM, Samuel SM, Strouse JJ, Markianos K, Andrews NC, Fleming MD. Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). Nature Genetics 2008, 40: 569-571. PMID: 18408718, PMCID: PMC3104019, DOI: 10.1038/ng.130.Peer-Reviewed Original ResearchConceptsIron-refractory iron deficiency anemiaIron deficiency anemia refractoryChronic blood lossOral iron therapyInadequate dietary intakeIron deficiency anemiaIron regulatory hormone hepcidinSystemic iron homeostasisAnemia refractoryIron therapyBlood lossDeficiency anemiaDietary intakeType II transmembrane serine proteaseTransmembrane serine proteaseHormone hepcidinIron deficiencyGermline mutationsTMPRSS6Iron homeostasisSerine proteasesAnemiaTherapyHepcidinMutations
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