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

  • Piero Farruggia | pfarruggia@libero.it Pediatric Hematology and Oncology Unit, ARNAS Civico, Di Cristina and Benfratelli Hospitals, Palermo, Italy.
  • Paola Quarello Pediatric Department, University of Turin, Turin, Italy.
  • Emanuela Garelli Pediatric Department, University of Turin, Turin, Italy.
  • Olivia Paolicchi Department of Pediatric Hematology and Oncology, A.O.U. Meyer Children Hospital, Florence, Italy.
  • Giovanni Battista Ruffo Hematology-Hemoglobinopathies Unit, A.R.N.A.S. Civico, Di Cristina and Benfratelli Hospitals, Palermo, Italy.
  • Liana Cuccia Hematology-Hemoglobinopathies Unit, A.R.N.A.S. Civico, Di Cristina and Benfratelli Hospitals, Palermo, Italy.
  • Sonia Cannella Pediatric Hematology and Oncology Unit, ARNAS Civico, Di Cristina and Benfratelli Hospitals, Palermo, Italy.
  • Giuseppa Bruno Pediatric Hematology and Oncology Unit, ARNAS Civico, Di Cristina and Benfratelli Hospitals, Palermo, Italy.
  • Paolo D'Angelo Pediatric Hematology and Oncology Unit, ARNAS Civico, Di Cristina and Benfratelli Hospitals, Palermo, Italy.

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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Published
2012-04-26
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Issue
Section
Case Reports & Letters
Keywords:
Diamond-Blackfan anemia, transfusion-dependency, RPL5 mutation.
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How to Cite
Farruggia, P., Quarello, P., Garelli, E., Paolicchi, O., Ruffo, G. B., Cuccia, L., Cannella, S., Bruno, G., & D’Angelo, P. (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(2), e25. https://doi.org/10.4081/pr.2012.e25