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Title: A Novel Deletion in the RPL5 Gene in a Lebanese Child With Diamond Blackfan Anemia Unresponsive to Steroid Treatment
Authors: Farah, Roula A
Kamel, Lojine
Roy, Noemi
Proven, Melanie
Wray, Katherine
Roberts, Irene
Wlodarski, Marcin W
Affiliations: Faculty of Medicine 
Keywords: Congenital anemias
Congenital bone marrow failure syndromes
DBA | Diamond-Blackfan anemia
Hematopoietic stem cell transplantation
Novel mutations
Ribosomal protein gene mutations
Issue Date: 2020
Part of: Journal of Pediatric Hematology/Oncology
Volume: 42
Issue: 4
Start page: e235
End page: e237
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.
ISSN: 10774114
DOI: 10.1097/MPH.0000000000001435
Open URL: Link to full text
Type: Journal Article
Appears in Collections:Faculty of Medicine

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