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目的探讨平均红细胞体积(MCV)、平均红细胞血红蛋白(MCH)联合血红蛋白(Hb)电泳在地中海贫血筛查中的临床应用价值,对地中海贫血初筛阳性者、夫妇为同型地中海贫携带者进行基因诊断,避免重型地中海贫血患儿出生。方法采用血常规五分类中的MCV、MCH联合血红蛋白电泳进行孕妇产前筛查。结果在3 720例被筛查人群中,筛查阳性765例,阳性率20.56%,其中:筛出α地中海贫血445例,阳性率11.96%,β地中海贫血320例,阳性率8.60%。经基因诊断确诊地中海贫血545例,占筛查总数的14.65%,其中:α地贫308例,占8.28%,β地贫杂合子185例,占4.97%,α复合β地贫52例,占1.40%。结论 MCV、MCH联合血红蛋白电泳可作为地贫初筛阳性的指标,结合基因诊断,对地中海贫的筛查和诊断有较大意义。
Objective To investigate the clinical value of mean corpuscular volume (MCV), mean hemoglobin (MCH) combined with hemoglobin (Hb) electrophoresis in thalassemia screening. To detect the seroprevalence of thalassemia , To avoid the birth of children with thalassemia major. Methods The prenatal screening of pregnant women was carried out by MCV and MCH in combination with hemoglobin electrophoresis. Results Among 3720 screening subjects, 765 were positive for screening, with a positive rate of 20.56%. Among them, 445 cases of alpha thalassemia were screened, the positive rate was 11.96%, and the incidence of beta thalassemia was 320. The positive rate was 8.60%. 545 cases of thalassemia were diagnosed by genetic diagnosis, accounting for 14.65% of the total number of screening, among which 308 cases were α-thalassemia, accounting for 8.28%, 185 cases were β-thalassemia heterozygotes, accounting for 4.97%, α-complex β thalassemia was 52 cases 1.40%. Conclusion MCV and MCH combined with hemoglobin electrophoresis can be used as a positive indicator of thalassemia primary screening, combined with genetic diagnosis, screening and diagnosis of thalassemia major significance.