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A Novel Deletion in the RPL5 Gene in a Lebanese Child With Diamond Blackfan Anemia Unresponsive to Steroid Treatment

Farah, Roula A. MD, FAAP*; Kamel, Lojine MD; Roy, Noemi MD; Proven, Melanie MD; Wray, Katherine MD; Roberts, Irene MD; Wlodarski, Marcin W. MD§

Journal of Pediatric Hematology/Oncology: March 29, 2019 - Volume Publish Ahead of Print - Issue - p
doi: 10.1097/MPH.0000000000001435
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Diamond-Blackfan Anemia (DBA) is a rare inherited form of pure red cell aplasia that usually manifests in infancy or early childhood, and is characterized by normochromic macrocytic anemia and bone marrow erythroblastopenia. The majority of DBA cases are associated with mutations in ribosomal protein genes. Here, we describe a Lebanese girl with RPL5-mutated DBA unresponsive to steroid treatment who died from complications following late hematopoietic stem cell transplantation performed at the age of 15 years.

*Department of Pediatrics, Saint George Hospital University Medical Center, Beirut

Department of Pediatrics, Balamand University, Tripoli, Lebanon

Biomedical Research Centre Blood Theme, University of Oxford, Oxford, England

§Department of Pediatrics, University of Freiburg, Freiburg, Germany

The authors declare no conflict of interest.

Reprints: Roula A. Farah, MD, FAAP, Department of Pediatrics, Saint George Hospital University Medical Center, Beirut 11002807, Lebanon (e-mail: roula.fs@dm.net.lb).

Received August 22, 2018

Accepted January 10, 2019

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