Mouse Models of Hereditary Xerocytosis-Associated PIEZO1 Mutations Reveal Genotype-Phenotype Differences in Hematological Defects and Iron Loading
Finberg K, Peres Diaz L, Shan P, Chua E, Lalwani K, Gallagher P. Mouse Models of Hereditary Xerocytosis-Associated PIEZO1 Mutations Reveal Genotype-Phenotype Differences in Hematological Defects and Iron Loading. Blood 2024, 144: 3851-3851. DOI: 10.1182/blood-2024-203740.Peer-Reviewed Original ResearchRed cell distribution widthHereditary xerocytosisSpleen weight/body weight ratioRed blood cell countMean corpuscular volumeCompared to wild-typeHematological defectsMouse modelHeart weight/body weight ratioWild-typeIron loadingComplete blood count analysisRed blood cell turnoverSerum transferrin saturationC57BL/6 genetic backgroundSerum hepcidin levelsLiver iron loadingYoung adult miceGenotype-phenotype differencesCell distribution widthMean corpuscular hemoglobinGain-of-function mutationsBlood count analysisNon-heme iron concentrationsRed cell indices