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

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Author(s): Piero Farruggia | Paola Quarello | Emanuela Garelli | Olivia Paolicchi | Giovanni Battista Ruffo | Liana Cuccia | Sonia Cannella | Giuseppa Bruno | Paolo D'Angelo

Journal: Pediatric Reports
ISSN 2036-749X

Volume: 4;
Issue: 2;
Date: 2012;
Original page

Keywords: Diamond-Blackfan anemia | Transfusion-dependency | RPL5 mutation

ABSTRACT
Diamond Blackfan Anemia typically presents in infants and is often associated to many types of malformations. Severity of anemia often needs a transfusional support in the first months of life. We describe a patient with Diamond Blackfan Anemia, related to a RPL5 mutation, without any physical abnormalities, in whom transfusion dependency had a really late onset. 
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