2018
KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV
Ravindranath Y, Johnson RM, Goyette G, Buck S, Gadgeel M, Gallagher PG. KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV. Journal Of Pediatric Hematology/Oncology 2018, 40: e405-e409. PMID: 29300242, PMCID: PMC6092092, DOI: 10.1097/mph.0000000000001056.Peer-Reviewed Original ResearchConceptsCongenital dyserythropoietic anemia type IVClinical courseSevere clinical courseType IVSevere clinical phenotypeIV patientsFetal anemiaTransfusion dependenceFunctional abnormalitiesClinical phenotypePatientsHematologic phenotypeChildrenErythrocyte membranesPhenotypeSplenectomyAnemiaComplete sex reversalFetalisAbnormalities
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