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Pediatric Reports
Volume 4
Issue 2
10.4081/pr.2012.e25
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Case Report

The Spectrum of Non-Classical Diamond-Blackfan Anemia: A Case of Late Beginning Transfusion Dependency Associated to a New RPL5 Mutation

by
Piero Farruggia
1,*,
Paola Quarello
2,
Emanuela Garelli
2,
Olivia Paolicchi
3,
Giovanni Battista Ruffo
4,
Liana Cuccia
4,
Sonia Cannella
1,
Giuseppa Bruno
1 and
Paolo D'Angelo
1
1
Pediatric Hematology and Oncology Unit, ARNAS Civico, Di Cristina and Benfratelli Hospitals, Palermo
2
Pediatric Department, University of Turin, Turin
3
Department of Pediatric Hematology and Oncology, A.O.U. Meyer Children Hospital, Florence
4
Hematology-Hemoglobinopathies Unit, A.R.N.A.S. Civico, Di Cristina and Benfratelli Hospitals, Palermo, Italy
*
Author to whom correspondence should be addressed.
Pediatr. Rep. 2012, 4(2), e25; https://doi.org/10.4081/pr.2012.e25
Submission received: 27 November 2011 / Revised: 27 November 2011 / Accepted: 13 March 2012 / Published: 26 April 2012

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

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MDPI and ACS Style

Farruggia, P.; Quarello, P.; Garelli, E.; Paolicchi, O.; Ruffo, G.B.; Cuccia, L.; Cannella, S.; Bruno, G.; D'Angelo, P. The Spectrum of Non-Classical Diamond-Blackfan Anemia: A Case of Late Beginning Transfusion Dependency Associated to a New RPL5 Mutation. Pediatr. Rep. 2012, 4, e25. https://doi.org/10.4081/pr.2012.e25

AMA Style

Farruggia P, Quarello P, Garelli E, Paolicchi O, Ruffo GB, Cuccia L, Cannella S, Bruno G, D'Angelo P. The Spectrum of Non-Classical Diamond-Blackfan Anemia: A Case of Late Beginning Transfusion Dependency Associated to a New RPL5 Mutation. Pediatric Reports. 2012; 4(2):e25. https://doi.org/10.4081/pr.2012.e25

Chicago/Turabian Style

Farruggia, Piero, Paola Quarello, Emanuela Garelli, Olivia Paolicchi, Giovanni Battista Ruffo, Liana Cuccia, Sonia Cannella, Giuseppa Bruno, and Paolo D'Angelo. 2012. "The Spectrum of Non-Classical Diamond-Blackfan Anemia: A Case of Late Beginning Transfusion Dependency Associated to a New RPL5 Mutation" Pediatric Reports 4, no. 2: e25. https://doi.org/10.4081/pr.2012.e25

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