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

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 phy...

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Autores principales: Farruggia, Piero, Quarello, Paola, Garelli, Emanuela, Paolicchi, Olivia, Ruffo, Giovanni Battista, Cuccia, Liana, Cannella, Sonia, Bruno, Giuseppa, D'Angelo, Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3395983/
https://www.ncbi.nlm.nih.gov/pubmed/22803003
http://dx.doi.org/10.4081/pr.2012.e25
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author Farruggia, Piero
Quarello, Paola
Garelli, Emanuela
Paolicchi, Olivia
Ruffo, Giovanni Battista
Cuccia, Liana
Cannella, Sonia
Bruno, Giuseppa
D'Angelo, Paolo
author_facet Farruggia, Piero
Quarello, Paola
Garelli, Emanuela
Paolicchi, Olivia
Ruffo, Giovanni Battista
Cuccia, Liana
Cannella, Sonia
Bruno, Giuseppa
D'Angelo, Paolo
author_sort Farruggia, Piero
collection PubMed
description 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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spelling pubmed-33959832012-07-16 The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation Farruggia, Piero Quarello, Paola Garelli, Emanuela Paolicchi, Olivia Ruffo, Giovanni Battista Cuccia, Liana Cannella, Sonia Bruno, Giuseppa D'Angelo, Paolo Pediatr Rep Case Report 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. PAGEPress Publications 2012-04-26 /pmc/articles/PMC3395983/ /pubmed/22803003 http://dx.doi.org/10.4081/pr.2012.e25 Text en ©Copyright P. Farruggia et al., 2012 This work is licensed under a Creative Commons Attribution NonCommercial 3.0 License (CC BY-NC 3.0). Licensee PAGEPress, Italy
spellingShingle Case Report
Farruggia, Piero
Quarello, Paola
Garelli, Emanuela
Paolicchi, Olivia
Ruffo, Giovanni Battista
Cuccia, Liana
Cannella, Sonia
Bruno, Giuseppa
D'Angelo, Paolo
The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation
title The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation
title_full The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation
title_fullStr The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation
title_full_unstemmed The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation
title_short The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation
title_sort spectrum of non-classical diamond-blackfan anemia: a case of late beginning transfusion dependency associated to a new rpl5 mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3395983/
https://www.ncbi.nlm.nih.gov/pubmed/22803003
http://dx.doi.org/10.4081/pr.2012.e25
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