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1. The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation

Author

Piero Farruggia, Paola Quarello, Emanuela Garelli, Olivia Paolicchi, Giovanni Battista Ruffo, Liana Cuccia, Sonia Cannella, Giuseppa Bruno, and Paolo D'Angelo

Subjects
Diamond-Blackfan anemia, transfusion-dependency, RPL5 mutation., Medicine, Pediatrics, RJ1-570
Abstract

Diamond Blackfan anemia typically presents in infants and is often associated with many kinds of malformations. Severity of anemia often needs transfusional support in the first months of life. We describe here a patient with Diamond Blackfan anemia related to a RPL5 mutation. The patient had no physical abnormalities and experienced a very late onset of transfusion dependency.

Published
2012
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