Using target next-generation sequencing assay in diagnosing of 46 patients with suspected congenital anemias / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 414-419, 2018.
Article
in Chinese
| WPRIM
| ID: wpr-1011775
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
High-Throughput Nucleotide Sequencing
/
Anemia
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Hematology
Year:
2018
Type:
Article
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