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目的探讨地中海贫血(地贫)漏诊原因,评价外周血平均红细胞体积(MCV)以及红细胞渗透脆性试验(RBC脆性试验)在诊断地贫中的临床价值。方法分析地贫患者及家系外周血MCV、RBC脆性试验及血红蛋白电泳检查结果,必要时进行地贫基因检查。结果291例地贫患者中单一MCV>78 fl者23例,占7.90%;单一RBC脆性试验正常者10例,占5.88%(19/339)。MCV>78 fl及RBC脆性试验同时正常者6例,占3.53%。三者总计为78例,占13.23%。结论MCV和(或)RBC脆性试验虽在临床筛查地贫中具有重要临床价值。但部分地贫患者(特别是α地贫)MCV和(或)RBC脆性可以正常。是临床及产前筛查过程中造成地贫基因携带者漏诊的主要原因。
Objective To investigate the causes of misdiagnosis of thalassemia (thalassemia), and to evaluate the clinical value of detecting mean peripheral blood erythrocyte volume (MCV) and erythrocyte infiltration fragility test (RBC fragility test) in the diagnosis of thalassemia. Methods The results of MCV, RBC fragility test and hemoglobin electrophoresis in peripheral blood of thalassemia patients and their families were analyzed. If necessary, the gene of thalassemia was examined. Results Among 291 thalassemia patients, 23 cases were single MCV> 78 fl, accounting for 7.90%; 10 cases were single normal RBC fragility test (5.88%, 19/339). MCV> 78 fl and RBC brittle test at the same time in 6 cases, accounting for 3.53%. The three totaled 78 cases, accounting for 13.23%. Conclusion The MCV and / or RBC fragility tests have important clinical value in clinical screening of thalassemia. However, MCV and / or RBC fragility may be normal in some patients with thalassemia (especially alpha thalassemia). Is the main cause of missed diagnosis of thalassemia carriers during clinical and prenatal screening.