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

Author

Farah RA, Kamel L, Roy N, Proven M, Wray K, Roberts I, and Wlodarski MW

Subjects
Adolescent, Allografts, Anemia, Diamond-Blackfan therapy, Child, Child, Preschool, Fatal Outcome, Female, Hematopoietic Stem Cell Transplantation, Humans, Infant, Newborn, Lebanon, Steroids, Anemia, Diamond-Blackfan genetics, Base Sequence, Drug Resistance genetics, Frameshift Mutation, Ribosomal Proteins genetics, Sequence Deletion
Abstract

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.

Published
2020
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