摘要
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-HPFHβ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。
Objective:to explore the value of capillary electrophoresis in screeningβ-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 ofβ-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 minorβ-thalassemia was 3.65%,the specificity was 0.996,and the sensitivity was 0.995.The cut-off value of HbF for screening minorβ-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-HPFHβdeletion,1 case with-28(A→G)merger IVS-Ι-128(T→G)double heterozygous mutations yet were found out,1 case with 47 bpβgene missing has not yet been reported in literature.Conclusion:Capillary electrophoresis has more high sensitivity and specificity in the screening ofβ-thalassemia in children,especially for the detection of rareβ-thalassemia.
作者
任振敏
李长钢
徐刚
黄娟
林镇湖
罗美珠
陈诗杨
陈运生
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)
出处
《中国实验血液学杂志》
CAS
CSCD
北大核心
2020年第1期230-234,共5页
Journal of Experimental Hematology
基金
深圳市卫生计生系统科研项目(SZFZ2017051).
