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

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

doi:10.4081/pr.2012.e25

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Case Report

26 April 2012

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

and

Pediatric Hematology and Oncology Unit, ARNAS Civico, Di Cristina and Benfratelli Hospitals, Palermo

Pediatric Department, University of Turin, Turin

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

Pediatr. Rep.2012, 4(2), e25;https://doi.org/10.4081/pr.2012.e25

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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

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