Clinical features and gene mutation spectrum in children with sideroblastic anemia

• Published in: Zhongguo dang dai er ke za zhi Vol. 21; no. 10; pp. 1016 - 1021
• Main Authors: An, Wen-Bin, Liu, Chao, Wan, Yang, Guo, Ye, Wang, Shu-Chun, Zhang, Ying-Chi, Zhu, Xiao-Fan
• Format: Journal Article
• Language: Chinese
• Published: 25.10.2019
• ISSN: 1008-8830
• DOI: 10.7499/j.issn.1008-8830.2019.10.012

OBJECTIVETo 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. METHODSClinical 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. RESULTSOf 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 n