Ren Zhen-Min, Li Chang-Gang, Xu Gang, Huang Juan, Lin Zhen-Hu, Luo Mei-Zhu, Chen Shi-Yang, Chen Yun-Sheng
Department of Laboratory,Medicine Shenzhen Children's Hospital, Shenzhen 518038, Guangdong Province, China.
Department of Hematology-Oncology, Shenzhen Children's Hospital, Shenzhen 518038, Guangdong Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2020 Feb;28(1):230-234. doi: 10.19746/j.cnki.issn.1009-2137.2020.01.039.
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.
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.
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.
Capillary electrophoresis has more high sensitivity and specificity in the screening of β- thalassemia in children, especially for the detection of rare β- thalassemia.
