Application Value of Capillary Electrophoresis in Screeningβ-Thalassemia of Children / 中国实验血液学杂志
Journal of Experimental Hematology
; (6): 230-234, 2020.
Article
ي Zh
| WPRIM
| ID: wpr-781459
المكتبة المسؤولة:
WPRO
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.
النص الكامل:
1
الفهرس:
WPRIM
نوع الدراسة:
Prognostic_studies
اللغة:
Zh
مجلة:
Journal of Experimental Hematology
السنة:
2020
نوع:
Article