2023
Congenital Dyserythropoietic Anemia Type II: An Update from the Congenital Dyseryhtropoietic Anemia Registry of North America (CDAR)
Elgammal Y, Risinger M, Husami A, Walden J, Gupta S, Shah N, Boyer J, Abajas Y, Winstead M, Miller D, Vidal-Anaya V, Vlachos A, Lal A, Ritchey A, Lorsbach R, Zhang W, Kalfa T, Niss O. Congenital Dyserythropoietic Anemia Type II: An Update from the Congenital Dyseryhtropoietic Anemia Registry of North America (CDAR). Blood 2023, 142: 1079. DOI: 10.1182/blood-2023-189389.Peer-Reviewed Original ResearchIron overloadIneffective erythropoiesisCongenital dyserythropoietic anemiaBlood transfusionHepatic hemosiderosisHemolytic anemiaIron levelsFrequency of transfusionGDF-15 levelsWhole-genome sequencingSeverity of anemiaAge of diagnosisCDA IINatural history studiesBody iron levelsDeep intronic variantsCDA II patientsCDA type IIIntronic variantsAutosomal recessive diseaseBone marrow erythroblastsBM examinationFerritin ratioGDF-15Anemia severity
2022
Hematopoietic Cell Transplantation for Congenital Dyserythropoietic Anemia: A Report from the Pediatric Transplant and Cellular Therapy Consortium
Rangarajan HG, Stanek JR, Abdel-Azim H, Modi A, Haight A, McKinney CM, McKeone DJ, Buchbinder DK, Katsanis E, Abusin GA, Ahmed I, Law J, Silva JG, Mallhi KK, Burroughs LM, Shah N, Shaw PJ, Greiner R, Shenoy S, Pulsipher MA, Abu-Arja R. Hematopoietic Cell Transplantation for Congenital Dyserythropoietic Anemia: A Report from the Pediatric Transplant and Cellular Therapy Consortium. Transplantation And Cellular Therapy 2022, 28: 329.e1-329.e9. PMID: 35288346, DOI: 10.1016/j.jtct.2022.03.007.Peer-Reviewed Original ResearchConceptsHematopoietic cell transplantationEvent-free survivalCongenital dyserythropoietic anemiaCell transplantationAllogeneic hematopoietic cell transplantationSecond hematopoietic cell transplantationDyserythropoietic anemiaSole curative optionVeno-occlusive diseaseRetrospective multicenter studyMajority of patientsOutcome of childrenUmbilical cord bloodCDA type IICDA type IAcute graftAggressive chelationChronic GVHDHost diseaseCumulative incidenceCurative optionGraft failureMedian durationNonmyeloablative regimensOverall survival