2020
Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency
Bianchi P, Fermo E, Lezon‐Geyda K, van Beers E, Morton HD, Barcellini W, Glader B, Chonat S, Ravindranath Y, Newburger PE, Kollmar N, Despotovic JM, Verhovsek M, Sharma M, Kwiatkowski JL, Kuo KHM, Wlodarski MW, Yaish HM, Holzhauer S, Wang H, Kunz J, Addonizio K, Al‐Sayegh H, London WB, Andres O, van Wijk R, Gallagher PG, Grace RFF. Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. American Journal Of Hematology 2020, 95: 472-482. PMID: 32043619, PMCID: PMC8127999, DOI: 10.1002/ajh.25753.Peer-Reviewed Original ResearchConceptsNon-missense mutationsPyruvate kinase deficiencyRare severe complicationsFrequency of complicationsLower extremity ulcerationsLower hemoglobin levelsKinase deficiencyNatural history studiesDifferent pathogenic variantsTerms of hemoglobinCongenital hemolytic anemiaGenotype-phenotype correlationLifetime transfusionsDeficient womenPregnancy outcomesPulmonary hypertensionSevere complicationsSplenectomy statusHemoglobin levelsHepatic failureNewborn periodClinical similaritiesWide genetic heterogeneityIron overloadHemolytic anemia
2015
A Pediatrician’s Practical Guide to Diagnosing and Treating Hereditary Spherocytosis in Neonates
Christensen RD, Yaish HM, Gallagher PG. A Pediatrician’s Practical Guide to Diagnosing and Treating Hereditary Spherocytosis in Neonates. Pediatrics 2015, 135: 1107-1114. PMID: 26009624, PMCID: PMC4444801, DOI: 10.1542/peds.2014-3516.Peer-Reviewed Original ResearchConceptsHereditary spherocytosisDiagnosis of HSABO hemolytic diseaseGlucose-6-phosphate dehydrogenase deficiencyHazardous hyperbilirubinemiaErythrocyte transfusionSymptomatic anemiaNeurologic dysfunctionPrompt diagnosisAdverse outcomesEmergency departmentNewborn periodNeonatal presentationNewborn infantsHemolytic diseaseAppropriate treatmentEarly suspicionHemolytic anemiaHemolytic conditionsAnticipatory guidanceNeonatesFirst monthAnemiaDehydrogenase deficiencyHyperbilirubinemia