2022
Anemia in the pediatric patient
Gallagher PG. Anemia in the pediatric patient. Blood 2022, 140: 571-593. PMID: 35213686, PMCID: PMC9373018, DOI: 10.1182/blood.2020006479.Peer-Reviewed Original ResearchMeSH KeywordsAnemiaAnemia, Iron-DeficiencyChildChild, PreschoolGenetic TestingHumansNervous System DiseasesConceptsLow birth weightIron deficiency anemiaNovel pharmacologic agentsWorld Health OrganizationNeurologic complicationsHeart failurePediatric patientsPhysical examinationBirth weightDeficiency anemiaChronic diseasesNutritional anemiaPharmacologic agentsSyndromic causesUndiagnosed casesTreatment strategiesCommon causeFamily historyPopulation-based approachAnemiaImportant causePreschool-age childrenDiagnostic testingGenetic testingDysmorphic features
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
Human Extrafollicular CD4+ Th Cells Help Memory B Cells Produce Igs.
Kim ST, Choi JY, Lainez B, Schulz VP, Karas DE, Baum ED, Setlur J, Gallagher PG, Craft J. Human Extrafollicular CD4+ Th Cells Help Memory B Cells Produce Igs. The Journal Of Immunology 2018, 201: 1359-1372. PMID: 30030323, PMCID: PMC6112860, DOI: 10.4049/jimmunol.1701217.Peer-Reviewed Original ResearchConceptsMemory B cellsHumoral recall responsesB cell folliclesT cell subsetsB cellsTfh cellsCell subsetsRecall responsesT cellsInhibitory receptor PD-1Follicular helper T cellsGerminal center B-cell maturationIL-21 secretionChemokine receptor expressionReceptor PD-1Helper T cellsT cell zonesPrimary immune responseChemokine receptor CXCR5Transcription factor Bcl6B cell maturationTonsillar CD4IL-10IL-21PD-1Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype–phenotype correlation
Singh SA, Sarangi S, Appiah‐Kubi A, Hsu P, Smith WB, Gallagher PG, Glader B, Chui DHK. Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype–phenotype correlation. Pediatric Blood & Cancer 2018, 65: e27220. PMID: 29749692, DOI: 10.1002/pbc.27220.Peer-Reviewed Original ResearchClinical 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
2013
Fetal hemoglobin in sickle cell anemia: Genetic studies of the Arab-Indian haplotype
Ngo D, Bae H, Steinberg MH, Sebastiani P, Solovieff N, Baldwin CT, Melista E, Safaya S, Farrer LA, Al-Suliman AM, Albuali WH, Bagshi M, Naserullah Z, Akinsheye I, Gallagher P, Luo HY, Chui DH, Farrell JJ, Al-Ali AK, Alsultan A. Fetal hemoglobin in sickle cell anemia: Genetic studies of the Arab-Indian haplotype. Blood Cells Molecules And Diseases 2013, 51: 22-26. PMID: 23465615, PMCID: PMC3647015, DOI: 10.1016/j.bcmd.2012.12.005.Peer-Reviewed Original ResearchAdolescentAdultAllelesAnemia, Sickle CellArabsBeta-GlobinsCarrier ProteinsChildChild, PreschoolFetal HemoglobinGenes, mybGTP-Binding ProteinsHaplotypesHemoglobin, SickleHomeodomain ProteinsHSP70 Heat-Shock ProteinsHumansKruppel-Like Transcription FactorsLocus Control RegionMiddle AgedMutationNuclear ProteinsPeptide Elongation FactorsPolymorphism, GeneticPromoter Regions, GeneticRepressor ProteinsSequence Analysis, DNATranscription FactorsYoung Adult
1999
Elevated blood lead levels in children are associated with lower erythropoietin concentrations
Liebelt E, Schonfeld D, Gallagher P. Elevated blood lead levels in children are associated with lower erythropoietin concentrations. The Journal Of Pediatrics 1999, 134: 107-109. PMID: 9880459, DOI: 10.1016/s0022-3476(99)70381-1.Peer-Reviewed Original Research
1993
Poikilocytic Hereditary Elliptocytosis Associated With Spectrin Alexandria: An al/50b Kd Variant That Is Caused by a Single Amino Acid Deletion
Gallagher P, Roberts W, Benoit L, Speicher D, Marchesi S, Forget B. Poikilocytic Hereditary Elliptocytosis Associated With Spectrin Alexandria: An al/50b Kd Variant That Is Caused by a Single Amino Acid Deletion. Blood 1993, 82: 2210-2215. PMID: 8400271, DOI: 10.1182/blood.v82.7.2210.2210.Peer-Reviewed Original ResearchConceptsRed blood cellsHereditary elliptocytosisPolymerase chain reactionHeterogeneous disorderBlood cellsSingle amino acid deletionImpaired abilityDifferent severityChain reactionKD variantAffected individualsAlpha iAbnormal peptideAmino acid deletionSpectrin dimer self-associationProteolytic cleavage sitesResidues 470KD peptidePosition 470Limited tryptic digestionAcid deletionProteolytic cleavageErythrocyte membranesAmino acid sequence analysisIndividuals
1991
Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide.
Floyd P, Gallagher P, Valentino L, Davis M, Marchesi S, Forget B. Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide. Blood 1991, 78: 1364-72. PMID: 1878597, DOI: 10.1182/blood.v78.5.1364.bloodjournal7851364.Peer-Reviewed Original Research