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