2024
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
2011
Refinement of the hereditary xerocytosis locus on chromosome 16q in a large Canadian kindred
Houston BL, Zelinski T, Israels SJ, Coghlan G, Chodirker BN, Gallagher PG, Houston DS, Zarychanski R. Refinement of the hereditary xerocytosis locus on chromosome 16q in a large Canadian kindred. Blood Cells Molecules And Diseases 2011, 47: 226-231. PMID: 21944700, DOI: 10.1016/j.bcmd.2011.08.001.Peer-Reviewed Original ResearchConceptsNormal hemoglobin levelsLarge CanadianProgressive iron loadingRed cell hemolysisCausative genetic mutationsHemoglobin levelsIndirect hyperbilirubinemiaAffected family membersClinical hallmarkHereditary xerocytosisMorphologic evaluationHemolytic processChromosome 16qTarget cellsOsmotic fragilityPhenotypic findingsGenetic mutationsDisease phenotypeCell hemolysisIron loadingFamily membersMode of inheritanceHemolysisHeterogeneous conditionCholelithiasis