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 hemoglobinHemolysis
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 erythrocytesPerinatal Onset Mevalonate Kinase Deficiency
Steiner LA, Ehrenkranz RA, Peterec SM, Steiner RD, Reyes-Múgica M, Gallagher PG. Perinatal Onset Mevalonate Kinase Deficiency. Pediatric And Developmental Pathology 2011, 14: 301-306. PMID: 21425920, DOI: 10.2350/11-02-0985-oa.1.Peer-Reviewed Original ResearchConceptsMevalonate kinase deficiencyPeriodic fever syndromeNeonatal periodKinase deficiencyFever syndromeDysmorphic featuresCentral nervous system abnormalitiesIntrauterine viral infectionCholestatic liver diseaseIntrauterine growth restrictionImmediate neonatal periodNervous system abnormalitiesSevere multisystem disorderSepsis syndromeRenal failureCerebral ventriculomegalyLiver diseasePersistent diarrheaClinical findingsPoor prognosisAutopsy findingsGrowth restrictionRare conditionExtramedullary erythropoiesisPerinatal period