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