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
2018
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study
Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM, Fermo E, Lezon-Geyda K, Morton DH, Neufeld EJ, Chonat S, Kollmar N, Knoll CM, Kuo K, Kwiatkowski JL, Pospíšilová D, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W. Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Blood 2018, 131: 2183-2192. PMID: 29549173, DOI: 10.1182/blood-2017-10-810796.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAnemia, Hemolytic, Congenital NonspherocyticBlood TransfusionChildChild, PreschoolCholecystectomyCombined Modality TherapyEnzyme ActivationFemaleGenetic Association StudiesGenotypeHumansInfantInfant, NewbornMaleMiddle AgedMutationPhenotypePyruvate KinasePyruvate Metabolism, Inborn ErrorsSplenectomySymptom AssessmentTreatment OutcomeYoung AdultConceptsIron overloadHemolytic anemiaPyruvate kinase deficiencyChildren age 5 yearsProspective clinical dataPK deficiencySeverity of anemiaKinase deficiencyNatural history studiesAge 5 yearsCongenital nonspherocytic hemolytic anemiaCongenital hemolytic anemiaBaseline hemoglobinPostsplenectomy thrombosisMulticenter registryPostsplenectomy sepsisPulmonary hypertensionSimultaneous cholecystectomyFrequent complicationPerinatal complicationsTransfusion burdenAplastic crisisExchange transfusionLeg ulcersRadiologic data
2016
Allogeneic bone marrow transplantation for treatment of severe hemolytic anemia attributable to hexokinase deficiency
Khazal S, Polishchuk V, Manwani D, Gallagher PG, Prinzing S, Mahadeo KM. Allogeneic bone marrow transplantation for treatment of severe hemolytic anemia attributable to hexokinase deficiency. Blood 2016, 128: 735-737. PMID: 27297791, DOI: 10.1182/blood-2016-03-702860.Peer-Reviewed Original Research
2015
Diagnosis and management of rare congenital nonimmune hemolytic disease.
Gallagher PG. Diagnosis and management of rare congenital nonimmune hemolytic disease. Hematology 2015, 2015: 392-9. PMID: 26637748, DOI: 10.1182/asheducation-2015.1.392.Peer-Reviewed Original ResearchConceptsErythrocyte hydrationHemolytic diseaseErythrocyte metabolismGroup of disordersEpisodic hemolysisLaboratory manifestationsPathophysiologic mechanismsClinical findingsHemolytic anemiaChronic hemolysisHemolytic disordersImportant causeDiseaseHeterogeneous groupDisordersAnemiaErythrocyte structureAbnormalitiesHemoglobin stabilityPathway leadUnstable hemoglobinopathiesMetabolismManagement considerationsUnstable hemoglobinHemolysisA 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
2013
The Patient With Transfusion-Dependent Anemia: Diagnosis and Directed Management With Targeted Next Generation Sequencing and Copy Number Analysis
Schulz V, Maksimova Y, Lezon-Geyda K, Gallagher P. The Patient With Transfusion-Dependent Anemia: Diagnosis and Directed Management With Targeted Next Generation Sequencing and Copy Number Analysis. Blood 2013, 122: 3419. DOI: 10.1182/blood.v122.21.3419.3419.Peer-Reviewed Original ResearchTransfusion-dependent anemiaMarrow failure syndromesBone marrow failure syndromesFailure syndromeCongenital dyserythropoietic anemiaBi-allelic mutationsIron overloadHemolytic anemiaGene mutationsNext-generation sequencingDyserythropoietic anemiaComplications of anemiaBone marrow findingsMissense mutationsTargeted Next-Generation SequencingMonths of ageSame clinical phenotypeExpectant managementWorking diagnosisChronic transfusionLiver failureMarrow findingsAppropriate therapyCommon diagnosisImmunodeficiency syndromeGlucose Phosphate Isomerase Deficiency In 2 Patients With Novel Mutations Presenting As Severe Neurologic Abnormalities and Transfusion Dependent Hemolytic Anemia
Puliyel M, Gallagher P, Berdoukas V, Glader B, Coates T. Glucose Phosphate Isomerase Deficiency In 2 Patients With Novel Mutations Presenting As Severe Neurologic Abnormalities and Transfusion Dependent Hemolytic Anemia. Blood 2013, 122: 947. DOI: 10.1182/blood.v122.21.947.947.Peer-Reviewed Original ResearchEvidence of kernicterusSevere neurologic abnormalitiesHemolytic anemiaTransfusion-dependent hemolytic anemiaNeurologic symptomsNeurologic abnormalitiesGlucose phosphate isomerase deficiencyHematopoietic stem cell transplantationCentral nervous system abnormalitiesDevelopmental delayStem cell transplantationTransfusion-dependent anemiaMotor neuron diseaseNervous system abnormalitiesSurvival of neuronsNeurotrophic growth factorsMonths of ageGlobal developmental delayAcute hemolytic crisisIsomerase deficiencyAnticonvulsant therapyCerebral atrophyNeurologic deficitsNeurologic presentationNeurological deficits
2011
A New Case of KLF1 G973A Mutation and Congenital Dyserythropoeitic Anemia (CDA)- Further Definition of Emerging New Syndrome and Possible Association with Gonadal Dysgenesis
Ravindranath Y, Goyette G, Buck S, Gadgeel M, Dombkowski A, Boxer L, Gallagher P, Johnson R. A New Case of KLF1 G973A Mutation and Congenital Dyserythropoeitic Anemia (CDA)- Further Definition of Emerging New Syndrome and Possible Association with Gonadal Dysgenesis. Blood 2011, 118: 2101. DOI: 10.1182/blood.v118.21.2101.2101.Peer-Reviewed Original ResearchE325K mutationRed blood cellsHemolytic anemiaFetal hydropsMale sexSevere anemiaNew casesK mutationAquaporin-1High fetal hemoglobinErythroid transcription factor KLF1Gonadal dysgenesisPresence of CD44Undiagnosed hemolytic anemiaPresence of spherocytesAbsence of CD44Array comparative genomic hybridization studyIntrauterine transfusionComparative genomic hybridization studyWeeks' gestationClinical courseClinical findingsKLF1 mutationsRenal stonesPatient's erythrocytes
2007
A Case of HPP with a Novel Combination of α and β Spectrin Mutations.
Natarajan K, Kutlar F, Li T, Gallagher P, Kutlar A. A Case of HPP with a Novel Combination of α and β Spectrin Mutations. Blood 2007, 110: 1736. DOI: 10.1182/blood.v110.11.1736.1736.Peer-Reviewed Original ResearchAfrican American femalesNon-immune hemolytic anemiaOld diagnosisHistory of splenectomySickle Cell CenterYear old black femaleAmerican femalesHereditary pyropoikilocytosisPathologic examRBC fragmentationEarly satietyPeripheral bloodClinical syndromeRed cell morphologyMonths durationHemolytic anemiaClinical examSevere formLifelong historyAutosomal recessive mannerRed pulpPatientsBlood disordersMembrane cytoskeleton proteinsAge 15
2005
Red Cell Membrane Disorders
Gallagher PG. Red Cell Membrane Disorders. Hematology 2005, 2005: 13-18. PMID: 16304353, DOI: 10.1182/asheducation-2005.1.13.Peer-Reviewed Original ResearchConceptsComplications of splenectomyOverwhelming postsplenectomy infectionRecent management guidelinesRole of splenectomyPenicillin-resistant pneumococciHealth care providersLong-term riskPulmonary hypertensionLaparoscopic approachMost patientsPostsplenectomy infectionSurgical methodsLaboratory heterogeneityCardiovascular diseaseHemolytic anemiaCare providersSplenectomyThrombotic disordersManagement guidelinesHereditary spherocytosisDisordersInfectionPrivate mutationsRed cell membrane disordersSpherocytosis
2004
Hereditary elliptocytosis: spectrin and protein 4.1R
Gallagher PG. Hereditary elliptocytosis: spectrin and protein 4.1R. Seminars In Hematology 2004, 41: 142-164. PMID: 15071791, DOI: 10.1053/j.seminhematol.2004.01.003.Peer-Reviewed Original Research
1997
Amino‐acid substitution in α‐spectrin commonly coinherited with nondominant hereditary spherocytosis
Tse W, Gallagher P, Jenkins P, Wang Y, Benoit L, Speicher D, Winkelmann J, Agre P, Forget B, Marchesi S. Amino‐acid substitution in α‐spectrin commonly coinherited with nondominant hereditary spherocytosis. American Journal Of Hematology 1997, 54: 233-241. PMID: 9067503, DOI: 10.1002/(sici)1096-8652(199703)54:3<233::aid-ajh10>3.0.co;2-e.Peer-Reviewed Original ResearchConceptsHereditary spherocytosisAlpha-spectrin geneNumber of patientsSevere hemolytic anemiaAmino acid substitutionsHemolytic anemiaPatientsPatterns of transmissionDifferent kindredsPolymorphic variantsAffected individualsErythrocyte spectrinGene defectsGenomic DNA analysisTrue homozygotesDisordersSpherocytosisSpectrin chainsGenomic DNAAlpha-spectrinKindredsLinkage disequilibriumΑ-spectrinAmino acidsDomain peptide