Clinical features and gene mutation spectrum in children with sideroblastic anemia.
- Author:
Wen-Bin AN
1
;
Wen-Bin AN
;
Chao LIU
;
Yang WAN
;
Ye GUO
;
Shu-Chun WANG
;
Ying-Chi ZHANG
;
Xiao-Fan ZHU
Author Information
1. Pediatric Blood Diseases Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China. xfzhu@ihcams.ac.cn.
- Publication Type:Journal Article
- MeSH:
5-Aminolevulinate Synthetase;
Anemia, Sideroblastic;
genetics;
Child;
Genetic Diseases, X-Linked;
Humans;
Mitochondrial Membrane Transport Proteins;
Mutation;
Myelodysplastic Syndromes;
Phenotype
- From:
Chinese Journal of Contemporary Pediatrics
2019;21(10):1016-1021
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To study the clinical features and gene mutation spectrum of children with sideroblastic anemia (SA) and the clinical value of targeted next-generation sequencing in the molecular diagnosis of children with SA.
METHODS:Clinical data were collected from 36 children with SA. Targeted next-generation sequencing was used to detect mutations in SA-related pathogenic genes and genes associated with heme synthesis and mitochondrial iron metabolism. The association between genotype and clinical phenotype was analyzed.
RESULTS:Of the 36 patients, 32 had congenital sideroblastic anemia (CSA) and 4 had myelodysplastic syndrome with ring sideroblasts (MDS-RS). Mutations in CSA-related genes were detected in 19 children (19/36, 53%), among whom 9 (47%) had ALAS2 mutation, 4 (21%) had SLC25A38 mutation, and 6 (32%) had mitochondrial fragment deletion. No pathogenic gene mutation was detected in 4 children with MDS-RS. Among the 19 mutations, 89% (17/19) were known mutations and 11% (2/19) were novel mutations. The novel mutation of the ALAS2 gene c.1153A>T(p.I385F) was rated as "possibly pathogenic" and the novel mutation of the SLC25A38 gene c.175C>T(p.Q59X) was rated as "pathogenic".
CONCLUSIONS:ALAS2 and SLC25A38 gene mutations are commonly seen in children with CSA, but mitochondrial gene fragment deletion also accounts for a relatively high proportion. For children with hypoplastic anemia occurring in infancy, mitochondrial disease should be considered.
