Application Value of Capillary Electrophoresis in Screeningβ-Thalassemia of Children.
10.7534/j.issn.1009-2137.2020.01.039
- Author:
Zhen-Min REN
1
;
Chang-Gang LI
2
;
Gang XU
3
;
Juan HUANG
3
;
Zhen-Hu LIN
3
;
Mei-Zhu LUO
3
;
Shi-Yang CHEN
3
;
Yun-Sheng CHEN
4
,
5
Author Information
1. Department of Laboratory,Medicine Shenzhen Children's Hospital, Shenzhen 518038, Guangdong Province, China.
2. Department of Hematology-Oncology, Shenzhen Children's Hospital, Shenzhen 518038, Guangdong Province, China.
3. Department of Laboratory, Medicine Shenzhen Children's Hospital, Shenzhen 518038, Guangdong Province, China.
4. Department of Laboratory, Medicine Shenzhen Children's Hospital, Shenzhen 518038, Guangdong Province, China,E-mail:chenyunsheng66@
5. com.
- Publication Type:Journal Article
- From:
Journal of Experimental Hematology
2020;28(1):230-234
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:to explore the value of capillary electrophoresis in screening β- thalassemia of children, and to establish the cutoff values of HbA2 and HbF in our laboratory.
METHODS:The data of hemoglobin capillary electrophoresis and genetic diagnosis of β- thalassemia from 886 examined children were retrospectively analyzed. The cutoff values of HbA2 and HbF were determined by ROC curve.
RESULTS:The cutoff value of HbA2 screening minor β- thalassemia was 3.65%, the specificity was 0.996, and the sensitivity was 0.995. The cut-off value of HbF for screening minor β- thalassemia was 1.45%, specificity was 0.751 and sensitivity was 0.675. Thus, 1 case with codon5 (CCT→C) mutation, 1 case with SEA -HPFH β deletion, 1 case with - 28 (A→G) merger IVS-Ι-128 (T→G) double heterozygous mutations yet were found out, 1 case with 47 bp β gene missing has not yet been reported in literature.
CONCLUSION:Capillary electrophoresis has more high sensitivity and specificity in the screening of β- thalassemia in children, especially for the detection of rare β- thalassemia.
