Using target next-generation sequencing assay in diagnosing of 46 patients with suspected congenital anemias
10.3760/cma.j.issn.0253-2727.2018.05.014
- VernacularTitle: 应用靶向二代测序诊断疑诊先天性贫血46例
- Author:
Yuan LI
1
;
Guangxin PENG
;
Qingyan GAO
;
Yang LI
;
Lei YE
;
Jianping LI
;
Lin SONG
;
Huihui FAN
;
Yang YANG
;
Youzhen XIONG
;
Zhijie WU
;
Wenrui YANG
;
Kang ZHOU
;
Xin ZHAO
;
Liping JING
;
Fengkui ZHANG
;
Li ZHANG
Author Information
1. Anemia Therapeutic Center, Institute of Hematology and Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China
- Publication Type:Journal Article
- Keywords:
Congenital anemia;
Next-generation sequencing;
Diagnosis
- From:
Chinese Journal of Hematology
2018;39(5):414-419
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To evaluate the impact of the targeted next-generation sequencing (NGS) assay for difficult congenital anemias.
Methods:Blood Disease Hospital Anemia Panel 2014 (BDHAP-2014) including 217 known genes of congenital anemias was developed. NGS and parental verification were performed for patients who were suspected diagnosed with congenital anaemia from August 2014 to July 2017.
Results:A total of 46 patients were enrolled in this study, the clinical suspection were 11 cases Fanconi anemia (FA), 8 cases congenital dyserythropoietic anemia (CDA), 6 cases congenital sideroblast anemia (CSA), 12 cases congenital hemolytic anemia (CHA), 1 case dyskeratosis congenital (DC), 4 cases iron-refractory iron deficiency anemia and 4 cases unexplained cytopenia (Uc), respectively. 28 (60.9%) of 46 patients became confirmed cases after targeted NGS, corresponding to 44 mutations of which 33 were new. 26(56.5%) patients with results of the assay matching to clinical suspection, including FA (5/11, 45.5%), CSA (6/6, 100.0%), CDA (3/8, 37.5%) and CHA (12/12, 100.0%). 2 (4.3%) cases not matching to clinical suspection, including dyskeratosis congenital (DC) was made in 1(2.2%) patients with suspected FA and familial hemophagocytic lymphohistiocytosis (FHL) was made in 1(2.2%) patients with suspected unexplained cytopenia (Uc). In 12 CHA patients, the hemolytic type was further clarified by the NGS. The remaining 18 cases were not clearly diagnosed.
Conclusion:Targeted NGS assay is of major impact on congenital anemias. The assay should be used routinely in congenital anemias.
