2024
Diagnosis and management of pyruvate kinase deficiency: international expert guidelines
Al-Samkari H, Shehata N, Lang-Robertson K, Bianchi P, Glenthøj A, Sheth S, Neufeld E, Rees D, Chonat S, Kuo K, Rothman J, Barcellini W, van Beers E, Pospíšilová D, Shah A, van Wijk R, Glader B, Mañú Pereira M, Andres O, Kalfa T, Eber S, Gallagher P, Kwiatkowski J, Galacteros F, Lander C, Watson A, Elbard R, Peereboom D, Grace R. Diagnosis and management of pyruvate kinase deficiency: international expert guidelines. The Lancet Haematology 2024, 11: e228-e239. PMID: 38330977, DOI: 10.1016/s2352-3026(23)00377-0.Peer-Reviewed Original ResearchExpert panelCountry of practiceCare of patientsEvidence-based guidelinesQuality of lifeClinical care of patientsPyruvate kinase deficiencySystematic literature searchDeficient careGuideline methodologistsPK deficiencyClinical careClinical guidelinesInternational expert guidelinesEstimated prevalenceHaemolytic anaemiaConsensus procedureManagement of chronic complicationsDraft recommendationsGRADE methodologyAGREE II frameworkExpert guidelinesLiterature searchClinical practiceInternational guidelines
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