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Pediatric Diamond‐Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects
Author(s) -
Dooijeweert Birgit,
Ommen C. Heleen,
Smiers Frans J.,
Tamminga Rienk Y. J.,
Loo Maroeska W.,
Donker Albertine E.,
Peters Marjolein,
Granzen Bernd,
Gille Hans J. J. P.,
Bierings Marc B.,
MacInnes Alyson W.,
Bartels Marije
Publication year - 2018
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/ejh.12995
Subject(s) - diamond–blackfan anemia , medicine , anemia , diamond , pediatrics , genetics , biology , materials science , metallurgy , ribosome , rna , gene
Abstract 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 of 43 patients (55.8%). An underlying genetic defect was identified in 26 of 43 patients (60.5%), the majority of which were found in the RPS 19 gene (12 of 43, 27.9%) with 1 patient carrying a mutation in a novel DBA candidate gene, RPL 9 . In 31 of 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 of 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 to increase our understanding of genotype and phenotype correlations of this intriguing disorder.