Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).

Autor: Niss O; Division of Hematology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA. Electronic address: Omar.niss@cchmc.org., Lorsbach RB; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA; Division of Pathology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Berger M; Division of Hematology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Chonat S; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA; Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta, Atlanta, GA, USA., McLemore M; Department of Hematology and Medical Oncology, Winship Cancer Institute of Emory University School of Medicine, Atlanta, GA, USA., Buchbinder D; Department of Hematology, CHOC Children's Hospital, Orange, CA, USA., McCavit T; Cook Children's Hospital, Fort Worth, TX, USA., Shaffer LG; Dell Children's Medical Center, Austin, TX, USA., Simpson J; UF Health Pediatric Subspecialty Program in Pensacola, Pensacola, FL, USA., Schwartz JH; UF Health Pediatric Subspecialty Program in Pensacola, Pensacola, FL, USA., Meznarich J; Division of Hematology-Oncology, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA; Primary Children's Hospital, Intermountain Healthcare, Salt Lake City, UT, USA., Emberesh M; Division of Hematology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Seu KG; Division of Hematology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Zhang W; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA; Laboratory of Genetics and Genomics, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Kalfa TA; Division of Hematology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA. Electronic address: theodosia.kalfa@cchmc.org.
Jazyk: angličtina
Zdroj: Blood cells, molecules & diseases [Blood Cells Mol Dis] 2021 Mar; Vol. 87, pp. 102534. Date of Electronic Publication: 2020 Dec 24.
DOI: 10.1016/j.bcmd.2020.102534
Abstrakt: Congenital dyserythropoietic anemias (CDAs) are characterized by ineffective erythropoiesis and distinctive erythroblast abnormalities; the diagnosis is often missed or delayed due to significant phenotypic heterogeneity. We established the CDA Registry of North America (CDAR) to study the natural history of CDA and create a biorepository to investigate the pathobiology of this heterogeneous disease. Seven of 47 patients enrolled so far in CDAR have CDA-I due to biallelic CDAN1 mutations. They all presented with perinatal anemia and required transfusions during infancy. Anemia spontaneously improved during infancy in three patients; two became transfusion-independent rapidly after starting interferon-α 2 ; and two remain transfusion-dependent at last follow-up at ages 5 and 30 y.o. One of the transfusion-dependent patients underwent splenectomy at 11 y.o due to misdiagnosis and returned to medical attention at 27 y.o with severe hemolytic anemia and pulmonary hypertension. All patients developed iron overload even without transfusions; four were treated with chelation. Genetic testing allowed for more rapid and accurate diagnosis; the median age of confirmed diagnosis in our cohort was 3 y.o compared to 17.3 y.o historically. In conclusion, CDAR provides an organized research network for multidisciplinary clinical and research collaboration to conduct natural history and biologic studies in CDA.
(Copyright © 2020 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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