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目的探讨新生儿脐血红细胞参数及血红蛋白(Hb)电泳联合检测对β地中海贫血的诊断价值。方法选取新生儿β-地中海贫血患者508例,正常对照508名,对全部脐血样本进行β-地贫基因型、血液常规分析和血红蛋白电泳分析。用ROC曲线评价脐血各项指标或联合检测对β地中海贫血的诊断价值。结果疾病组红细胞平均容量(MCV)、平均红细胞血红蛋白量(MCH)、平均血红蛋白浓度(MCHC)、糖化血红蛋白(HbA)均低于正常对照组,血红蛋白F(HbF)高于正常对照组,差异有统计学意义(P<0.05);血液学单项指标诊断β-地中海贫血的ROC曲线下面积(AUC-ROC)由高到低依次为HbA(0.91)、HbF(0.90)、MCH(0.65)、MCV(0.61)和MCHC(0.53)。MCH、HbF、HbA联合诊断β地中海贫血的AUC-ROC为0.93(95%CI∶0.91~0.95),优于任一单项指标(P<0.05)。结论应用MCH、HbF联合HbA检测对β-地中海贫血有较高的诊断价值。
Objective To investigate the diagnostic value of umbilical cord erythrocyte parameters and hemoglobin (Hb) electrophoresis in the diagnosis of β-thalassemia. Methods 508 cases of β-thalassemia in newborns and 508 normal controls were selected. The β-thalassemia genotypes, blood routine analysis and hemoglobin electrophoresis were analyzed in all cord blood samples. Using ROC curve to evaluate the diagnostic value of various indexes of umbilical cord blood or the combined detection of β-thalassemia. Results The average volume of MCV, MCH, MCHC and HbA in the disease group were lower than those in the normal control group, and hemoglobin F (HbF) was higher than that in the normal control group (AUC-ROC) of HbA (0.91), HbF (0.90), MCH (0.65), MCV (0.61) and MCHC (0.53). The AUC-ROC of combined detection of MCH, HbF and HbA in β-thalassemia was 0.93 (95% CI: 0.91-0.95), which was better than any single index (P <0.05). Conclusion The diagnostic value of MCH, HbF combined with HbA in the diagnosis of β-thalassemia is high.