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目的探讨应用高效液相色谱技术(HPLC)快速诊断小儿β地中海贫血(β地贫)的实际应用价值。方法应用HPLC技术,对150例临床疑似珠蛋白生成障碍性贫血患儿进行血红蛋白分析,检测其血红蛋白A2(Hb A2)与血红蛋白F(Hb F)的含量。同时对上述患儿采用缺口聚合酶链反应技术(GAP-PCR)检测α地中海贫血(α地贫)缺失型突变,反向点杂交法(RDB)检测α地贫基因点突变与17种β珠蛋白基因突变。结果 1.以Hb A2>4.0%或Hb F>10.0%作为HPLC方法诊断β地贫的诊断标准,共检测出90例β地贫。与基因分析方法比较,应用HPLC方法检测小儿β地贫的敏感性为98.9%,特异性为100.0%,准确性为99.3%,阳性预测值为100.0%,阴性预测值为98.3%。2.β地贫纯合子或双重杂合子与β地贫杂合子的Hb F含量有显著性差异。结论应用HPLC方法检测小儿β地贫敏感性高,特异性强,与基因分析方法有很高的符合率,且其操作简便,快速,适用于小儿β地贫的诊断分型。
Objective To explore the practical value of rapid detection of β thalassemia (β thalassemia) in children by high performance liquid chromatography (HPLC). Methods The hemoglobin of 150 children with clinical suspected PAH was analyzed by HPLC. The levels of hemoglobin A2 (Hb A2) and hemoglobin F (Hb F) were detected. At the same time, deletion mutation of α-thalassemia (α-thalassemia) was detected by GAP-PCR and dot blot hybridization (RDB) Protein gene mutation. Results 1. To diagnose the diagnosis of β-thalassemia by Hb A2> 4.0% or Hb F> 10.0%, 90 cases of β-thalassemia were detected. Compared with the method of gene analysis, the sensitivity, specificity and accuracy of HPLC method for detection of β-thalassemia in children were 98.9%, 100.0%, 99.3%, 100.0%, and 98.3%, respectively. 2.β-thalassemic homozygote or double heterozygote and β thalassemia heterozygous Hb F content was significantly different. Conclusion The detection of β-thalassemia in children by HPLC has high sensitivity and specificity and high coincidence rate with the method of gene analysis. The method is simple, rapid and suitable for the diagnosis of β-thalassemia in children.