Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).
Publication/Presentation Date
3-1-2021
Abstract
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
Volume
87
First Page
102534
Last Page
102534
ISSN
1096-0961
Published In/Presented At
Niss, O., Lorsbach, R. B., Berger, M., Chonat, S., McLemore, M., Buchbinder, D., McCavit, T., Shaffer, L. G., Simpson, J., Schwartz, J. H., Meznarich, J., Emberesh, M., Seu, K. G., Zhang, W., Kalfa, T. A., & CDAR consortium (2021). Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR). Blood cells, molecules & diseases, 87, 102534. https://doi.org/10.1016/j.bcmd.2020.102534
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
33401150
Department(s)
Department of Pediatrics
Document Type
Article