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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;
Start page: e25;
Date: 2012;
Original page

Keywords: Diamond-Blackfan anemia | transfusion-dependency | RPL5 mutation.

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.
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