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
2005
Molecular mechanisms in the inherited red cell membrane disorders
Liem R, Gallagher P. Molecular mechanisms in the inherited red cell membrane disorders. Drug Discovery Today Disease Mechanisms 2005, 2: 539-545. DOI: 10.1016/j.ddmec.2005.11.004.Peer-Reviewed Original ResearchRed cell membrane disordersSingle molecular defectEpigenetic controlMRNA processingProtein functionGene expressionMolecular mechanismsMolecular defectsErythrocyte membrane structureRed cell membrane abnormalitiesMembrane structureMolecular medicineMutationsMembrane disordersDiverse groupCurrent knowledgeGenesRegion mutationsMolecular heterogeneityPromoter mutationsCell membrane abnormalitiesErythrocyte membranesInherited disorderMembrane abnormalitiesProtein