Featured Publications
Bone marrow sinusoidal endothelial cells are a site of Fgf23 upregulation in a mouse model of iron deficiency anemia
Li X, Lozovatsky L, Tommasini S, Fretz J, Finberg K. Bone marrow sinusoidal endothelial cells are a site of Fgf23 upregulation in a mouse model of iron deficiency anemia. Blood Advances 2023, 7: 5156-5171. PMID: 37417950, PMCID: PMC10480544, DOI: 10.1182/bloodadvances.2022009524.Peer-Reviewed Original ResearchMeSH KeywordsAnemia, Iron-DeficiencyAnimalsBone MarrowDisease Models, AnimalEndothelial CellsErythropoietinIronMiceRNA, MessengerUp-RegulationConceptsSinusoidal endothelial cellsEndothelial cellsBone marrowBM sectionsFGF23 upregulationFibroblast growth factor 23Iron deficiencyElevated serum erythropoietinFGF23 promoter activityBM endothelial cellsGrowth factor 23Vitamin D metabolismIron deficiency anemiaSystemic iron deficiencyKnockout mice exhibitBone marrow sinusoidal endothelial cellsNormal iron balanceNonanemic controlsChronic anemiaFactor 23D metabolismEndothelial cell populationErythropoietin treatmentDeficiency anemiaMouse modelLow iron promotes megakaryocytic commitment of megakaryocytic-erythroid progenitors in humans and mice
Xavier-Ferrucio J, Scanlon V, Li X, Zhang PX, Lozovatsky L, Ayala-Lopez N, Tebaldi T, Halene S, Cao C, Fleming MD, Finberg KE, Krause DS. Low iron promotes megakaryocytic commitment of megakaryocytic-erythroid progenitors in humans and mice. Blood 2019, 134: 1547-1557. PMID: 31439541, PMCID: PMC6839952, DOI: 10.1182/blood.2019002039.Peer-Reviewed Original ResearchMeSH KeywordsAnemia, Iron-DeficiencyAnimalsCell DifferentiationCell ProliferationHumansIronMegakaryocyte Progenitor CellsMegakaryocytesMiceMice, KnockoutThrombocytosisConceptsMK lineage commitmentExtracellular signal-regulated kinase (ERK) pathwaySignal-regulated kinase pathwayMegakaryocytic-erythroid progenitorsBone marrow transplantation assaysSignal transduction analysisIron-deficient conditionsGene expression analysisMegakaryocytic commitmentLineage commitmentTransferrin receptor 2MK lineageTmprss6-/- miceIron sensorExpression analysisKinase pathwayTransduction analysisTransplantation assaysErythroid progenitorsMarrow environmentHematopoietic cellsMessenger RNAPhospho-ERK1/2Systemic iron deficiencyLow ironNormalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency
Heeney MM, Guo D, De Falco L, Campagna DR, Olbina G, Kao PP, Schmitz-Abe K, Rahimov F, Gutschow P, Westerman K, Ostland V, Jackson T, Klaassen R, Markianos K, Finberg KE, Iolascon A, Westerman M, London WB, Fleming MD. Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency. Blood 2018, 132: 448-455. PMID: 29895660, PMCID: PMC6071554, DOI: 10.1182/blood-2017-03-773028.Peer-Reviewed Original ResearchAdultAnemia, Iron-DeficiencyHepcidinsHumansIronMembrane ProteinsMiddle AgedMutationPrognosisSerine EndopeptidasesIron-Refractory Iron Deficiency Anemia (IRIDA)
Heeney MM, Finberg KE. Iron-Refractory Iron Deficiency Anemia (IRIDA). Hematology/Oncology Clinics Of North America 2014, 28: 637-652. PMID: 25064705, DOI: 10.1016/j.hoc.2014.04.009.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsIron deficiency anemiaIron-refractory iron deficiency anemiaDeficiency anemiaChronic blood lossOral iron supplementationParenteral iron therapyInadequate dietary intakeSingle clinical entitySystemic iron homeostasisIron therapyBlood lossClinical featuresClinical entityIron supplementationDietary intakeAnemiaMultiple family membersCommon global problemTMPRSS6 geneRecent genetic studiesFamily membersIron homeostasisEtiologyTherapyIntakeDown-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 transcriptionMiceMutations 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
2013
Iron Refractory Iron Deficiency Anemia: Presentation With Hyperferritinemia and Response to Oral Iron Therapy
Khuong-Quang DA, Schwartzentruber J, Westerman M, Lepage P, Finberg KE, Majewski J, Jabado N. Iron Refractory Iron Deficiency Anemia: Presentation With Hyperferritinemia and Response to Oral Iron Therapy. Pediatrics 2013, 131: e620-e625. PMID: 23319530, PMCID: PMC3675830, DOI: 10.1542/peds.2012-1303.Peer-Reviewed Case Reports and Technical NotesMeSH KeywordsAdministration, OralAdolescentAnemia, HypochromicAnemia, Iron-DeficiencyAnemia, RefractoryChildChild, PreschoolChromosome AberrationsDNA Mutational AnalysisExomeFemaleFerritinsFollow-Up StudiesGenetic Carrier ScreeningGenotypeHumansIronLong-Term CareMaleMembrane ProteinsMutation, MissenseSerine EndopeptidasesConceptsIron deficiency anemiaIron-refractory iron deficiency anemiaOral iron therapyWhole-exome sequencingOral ironIron therapyDeficiency anemiaChildhood iron deficiency anemiaExome sequencingUnusual clinical presentationParenteral iron administrationSpectrum of diseaseIron regulatory genesSevere microcytic anemiaAutosomal recessive disorderAnemia refractoryBiological presentationClinical presentationInitial presentationIron administrationAnemiaMicrocytic anemiaGenetic testingHyperferritinemiaHeterozygous mutations
2009
Iron-Refractory Iron Deficiency Anemia
Finberg KE. Iron-Refractory Iron Deficiency Anemia. Seminars In Hematology 2009, 46: 378-386. PMID: 19786206, DOI: 10.1053/j.seminhematol.2009.06.006.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsMeSH KeywordsAdministration, OralAnemia, Iron-DeficiencyAnemia, RefractoryAntimicrobial Cationic PeptidesChildChild, PreschoolFemaleGPI-Linked ProteinsHematinicsHemochromatosis ProteinHepcidinsHumansInfantInfusions, ParenteralIronIron CompoundsLiverMaleMembrane ProteinsMutationSerine EndopeptidasesTreatment FailureUp-RegulationConceptsIron-refractory iron deficiency anemiaIron deficiency anemiaDeficiency anemiaOral iron treatmentParenteral iron therapyAutosomal recessive disorderIron therapyClinical presentationRecent studiesHepcidin expressionIron absorptionIRIDA patientsTransmembrane serine proteaseIron treatmentAnemiaElevated levelsRecessive disorderHepcidinLiverDisordersTMPRSS6Serine proteases