【摘要】 目的探讨地中海贫血筛查指标的临床应用价值。方法采用红细胞脆性、平均红细胞体积(MCV)、血红蛋白电泳筛查地中海贫血可疑病例,并对可疑病例进行地中海贫血基因诊断和血清铁蛋白检查。结果①从3644例受检者中筛查出636例可疑地中海贫血患者,红细胞脆性、MCV、HbA2三者检出率分别为17.5%、17.1%、7.1%;可疑地中海贫血患者中,红细胞脆性<70%、MCV<80fL、HbA2≥3.5%的患者分别为100%、97.8%、40.4%。②可疑地中海贫血患者中,红细胞脆性<65%组与脆性为65%～70%组比较,地中海贫血基因诊断符合率差异有统计学意义(P<0.05),但后组基因诊断符合率仍然高达54.3%。③可疑地中海贫血患者中,MCV<80fL组与MCV≥80fL组比较,HbA2≥3.5%且MCV<80fL组与HbA2≥3.5%且MCV≥80fL组比较,地中海贫血基因诊断符合率差异无统计学意义(P>0.05)。④可疑地中海贫血患者中确诊缺铁性贫血、地中海贫血、地中海贫血合并缺铁性贫血比例分别为16.3%、67.0%、16.7%,地中海贫血筛查的特异性为83.7%。结论①红细胞脆性<70%是地中海贫血筛查最敏感简便的指标,宜作为产前检查地中海贫血筛查指标。②MCV<80fL是地中海贫血筛查的简便指标,但需要结合红细胞脆性、HbA2等红细胞参数提高检出率。③对筛查出的可疑地中海贫血患者必须同时进行地中海贫血基因检查和铁代谢检查。更多还原

【Abstract】 Objective To investigate the clinic value of thalassemia investigation. Methods The propositus was tested with erythrocyte osmotic fragility,mean corpuscular volume(MCV) ,and hemoglobin electrophoresis and the suspected cases were diagnosed in terms of Thalassemia gene identification and Fer diagnosis. Results ① Out of 3 644 cases,636 were suspected of the Thalassemia and the incidences of the cases found by erythrocyte osmotic fragility,MCV,and HbA2 test were 17.5%,17.1% and 7.1%. The suspected Thalassemia cases whose erythrocyte osmotic fragility <70%,MCV<80 fL,and HbA2≥3.5% were correspondingly 100%,97.8% and 40.4%. ② In comparison with erythrocyte osmotic fragility <65%,the coincidence rate of erythrocyte osmotic fragility 为 65% ～70% was still as high as 54.3% . The distinction of the coincidence rate had a sense of statistics(P<0.05) . ③ However,there was no sense of statistics(P> 0.05) in distinction between MCV<80 fL and MCV ≥80 fL and HbA2≥3.5% with MCV<80 fL and HbA2≥3.5% with MCV≥80 fL. ④ With the diagnosis of the Thalassemia gene and Fer check,the proportions of Iron deficiency anemia,Thalassemia,and erythrocyte osmotic fragility. Iron deficiency anemia were 16.4%,16.7% and 67.0%. Conclusion ① Erythrocyte osmotic fragility <70% is the simplest and most sensitive way for the Thalassemia investigation. ② MCV<80 fL is the simplest way for the investigation,but the erythrocyte osmotic fragility and HbA2 need to be combined to improve the rate of incidence. ③ Simultaneously,it is necessary to diagnose the suspected cases of the Thalassemia genes and serum iron test.更多还原