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
2020
Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR)
Niss O, Lorsbach R, Berger M, Chonat S, McLemore M, Buchbinder D, McCavit T, Shaffer L, Simpson J, Schwartz J, Meznarich J, Emberesh M, Seu K, Zhang W, Kalfa T, Husami A, Kalfa T, Lorsbach R, Lutzko C, Nelson A, Niss O, Quinn C, Seu K, Zhang W, Chonat S, Buchbinder D, Johnson C, McCavit T, Shaffer L, Rothman J, Gupta S, Toscano M, Forouhar M, Gidvani-Diaz V, Ball J, Roach G, Wagner K, Milanovich S, Boyer J, Chawla J, Smith C, Lee A, Simpson J, Schwartz J, Radulescu V, Abajas Y, Ritchey A, Meznarich J, Underhill H, Ravindranath Y, McLemore M, Shah N. Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR). Blood Cells Molecules And Diseases 2020, 87: 102534. PMID: 33401150, PMCID: PMC8809105, DOI: 10.1016/j.bcmd.2020.102534.Peer-Reviewed Original ResearchConceptsCongenital dyserythropoietic anemiaNatural historyTransfusion-dependent patientsSevere hemolytic anemiaPulmonary hypertensionMedian ageHemolytic anemiaIron overloadMedical attentionIneffective erythropoiesisHeterogeneous diseasePatientsAccurate diagnosisAnemiaSignificant phenotypic heterogeneityGenetic testingPerinatal anemiaDyserythropoietic anemiaBiologic studiesDiagnosisAge 5TransfusionRegistryPhenotypic heterogeneityResearch Network