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
2008
Hereditary spherocytosis
Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. The Lancet 2008, 372: 1411-1426. PMID: 18940465, DOI: 10.1016/s0140-6736(08)61588-3.Peer-Reviewed Original ResearchConceptsHereditary spherocytosisHaemolytic anaemiaSevere haemolytic anaemiaCommon inherited disorderErythrocyte transfusionMost patientsAplastic crisisCommon complicationPrimary lesionNorthern European ancestryClinical severityHaemolytic episodeAnemiaInherited disorderIsolated mutationsCareful assessmentSpherocytosisEuropean ancestryDisordersMain causeCholelithiasisSplenectomyJaundiceSplenomegalyTransfusion