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.
题目: 毛细管电泳筛查小儿β地中海贫血的应用研究.
目的: 探讨毛细管电泳在小儿β地中海贫血筛查中的价值,并建立本实验室HbA2、HbF的截断值.
方法: 分析886例血红蛋白电泳的结果以及它们对应的β地中海贫血基因结果，通过ROC曲线确定HbA2、HbF的截断值.
结果: HbA2筛查轻型β地中海贫血的截断值是3.65%,特异度是0.996，敏感度是0.995。 HbF筛查轻型β地中海贫血的截断值是1.45%，特异度是0.751、敏感度是0.675；由此还检出了1例Codon5（CCT→C）突变、1例 SEA-HPFH β缺失、1例-28（A→G）合并IVS-Ⅰ-128（T→G）双重杂合突变、1例尚未见报道47bp的β缺失.
结论: 毛细管电泳在筛查小儿β地中海贫血中具有较高的灵敏度和特异性，尤其是对罕见β地中海贫血的检测具有重要意义.