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

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 RPS19 gene (12 of 43, 27.9%) with 1 patient carrying a mutation in a novel DBA candidate gene, RPL9. 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.

journal_name

Eur J Haematol

authors

van Dooijeweert B,van Ommen CH,Smiers FJ,Tamminga RYJ,Te Loo MW,Donker AE,Peters M,Granzen B,Gille HJJP,Bierings MB,MacInnes AW,Bartels M

doi

10.1111/ejh.12995

subject

Has Abstract

pub_date

2018-02-01 00:00:00

pages

163-170

issue

2

eissn

0902-4441

issn

1600-0609

journal_volume

100

pub_type

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