Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects

INTRODUCTION: Diamond-Blackfan anemia (DBA) is characterized by hypoplastic anemia, congenital anomalies, and a predisposition for malignancies. Most of our understanding of this disorder stems from molecular studies combined with extensive data input from international patient registries.OBJECTIVES: To create an overview of the pediatric DBA population in the Netherlands.METHODS: Forty-three patients diagnosed with DBA from all Dutch university pediatric hospitals were included in this study and their clinical and genetic characteristics were collected from patient records.RESULTS: Congenital malformations were present in 24/43 patients (55.8%). An underlying genetic defect was identified in 26/43 patients (60.5%), the majority of which were found in the RPS19 gene (12/43, 27.9%) with one patient carrying a mutation in a novel DBA candidate gene, RPL9. In 31/35 (88.6%) patients an initial response to glucocorticoid treatment was observed. Six patients (14.0%) underwent hematopoietic stem cell transplantation, and eleven patients (11/43, 25.6%) became treatment-independent spontaneously.CONCLUSION: In agreement with previous reports, the Dutch pediatric DBA population is both clinically and genetically heterogeneous. National and international registries, together with more extensive genetic testing are crucial in order to increase our understanding of genotype and phenotype correlations of this intriguing disorder. This article is protected by copyright. All rights reserved.