| 红细胞参数筛查孕妇地中海贫血截断值研究 |
| 投稿时间：2024-07-20 修订日期：2024-08-17 点此下载全文 |
| 引用本文：段美帆,张力,卫蔷,汪月梅,黄楠.红细胞参数筛查孕妇地中海贫血截断值研究[J].医学研究杂志,2025,54(1):129-133 |
| DOI：
10.11969/j.issn.1673-548X.2025.01.024 |
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| 中文摘要:目的 探索红细胞参数平均红细胞体积(mean corpuscular volume, MCV)和平均血红蛋白含量(mean corpuscular hemoglobin, MCH)筛查四川地区孕妇地中海贫血(thalassaemia,简称地贫)截断值,以基因检测为金标准,分析MCV/MCH、血红蛋白(hemoglobin, Hb)电泳、MCV/MCH联合Hb电泳3种筛查方案的价值。方法 纳入2019年7月～2020年12月在四川大学华西第二医院产科就诊且血常规MCV≤90fl或MCH≤29pg的554例孕妇作为研究组,进行Hb电泳和地贫基因检测,并随机抽取经基因检测排除地贫的640例孕妇作为对照组。使用SPSS 23.0统计学软件绘制ROC曲线,确定筛查孕妇地贫的MCV和MCH截断值,比较MCV/MCH、Hb电泳、MCV/MCH联合Hb电泳3种方案的筛查效能。结果 经基因检测确诊地贫159例(28.7%,159/554)；其中α-地贫占67.9%(108/159),β-地贫占29.6%(47/159),α-合并β-地贫占2.5%(4/159)；α-地贫以-α3.7/αα杂合缺失型(29.6%, 47/159)和--SEA/αα杂合缺失型(27.7%, 44/159)最多见,β-地贫以CD17杂合突变型(11.3%, 18/159)最多见；地贫孕妇Hb、MCV和MCH分别低于对照组孕妇；β-地贫孕妇Hb、MCV和MCH分别低于α-地贫孕妇；--SEA/αα地贫孕妇Hb、MCV和MCH分别低于-α3.7/αα地贫孕妇,差异均有统计学意义(P<0.05)；计算得出MCV、MCH筛查地贫的截断值分别为84.4fl、28.1pg,以此截断值筛查地贫的敏感度分别为90%、92%,特异性分别为78%、81%；以基因检测为金标准,与采用本研究确定的MCV/MCH截断值进行MCV/MCH筛查法相比较,采用Hb电泳单独筛查研究组554例孕妇,筛查敏感度更低、漏诊率更高,且差异有统计学意义(P<0.05)；采用MCV/MCH联合Hb电泳筛查研究组554例孕妇,筛查特异性更低,差异有统计学意义(P<0.05)。结论 四川地区最常见的α地贫基因型为-α3.7/αα和--SEA/αα,β-地贫以CD17杂合突变型最多见。MCV、MCH筛查孕妇地贫最佳截断值分别为84.4fl和28.1pg,此截断值兼顾高敏感度、高特异性和低漏诊率。Hb电泳单独用于地贫筛查漏诊率高,MCV/MCH联合Hb电泳筛查并不能减少漏诊率。 |
| 中文关键词:地中海贫血 孕妇 平均红细胞体积 平均血红蛋白含量 血红蛋白电泳 基因分型 |
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| Study On Cut-off Value of MCV and MCH Screening on Thalassemia in Pregnant Women. |
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| Abstract:Objective To explore the cut-off values of mean corpuscular volume(MCV)and mean corpuscular hemoglobin(MCH)for thalassemia screening among pregnant women in Sichuan. Taking genetic testing as the golden standard, the efficacy of MCV or MCH, Hb electrophoresis alone, MCV or MCH combined with Hb electrophoresis in thalassemia screening of pregnant women was evaluated. Methods A total of 554 pregnant women with red blood cell parameters MCV≤90fl or MCH≤29pg were catagorized in the study group. All 554 pregnant women were tested for Hb electrophoresis and thalassemia gene. At the same time, 640 pregnant women who had been excluded thalassemia by genetic test were catagorized in the control group randomly. The Receiver Operating Characteristic (ROC) curves was drawn by software SPSS 23.0 to find out the cut-off values and efficacy of MCV or MCH in screening thalassemia of pregnant women. The efficacy of MCV or MCH, Hb electrophoresis alone, MCV or MCH combined with Hb electrophoresis in thalassemia screening of pregnant women was analyzed. Results A totla of 159 pregnant women were diagnosed as thalassemia by genetic testing (28.7%, 159/554). There are 108 cases of α-thalassemia (67.9%, 108/159), 47 cases of β-thalassemia (29.6%, 47/159), and 4 cases of α-combined β-thalassemia (2.5%, 4/159). The most common gene types of α-thalassemia were -α3.7/αα (29.6%, 47/159) and --SEA/αα (27.7%, 44/159). The most common gene type of β-thalassemia was β-CD17 (11.3 percent, 18/159). The level of Hb, MCV and MCH of pregnant women with thalassemia was lower than that in the control group. The level of Hb, MCV and MCH of pregnant women with β thalassemia was lower than that with α thalassemia. The level of Hb, MCV and MCH of pregnant women with-SEA/αα thalassemia was lower than that with -α3.7/αα thalassemia. The differences were all statistically significant (P<0.05). The cut-off value of MCV and MCH for screening thalassemia was 84.4fl and 28.1pg, respectively. When using 84.4fl as the cut-off value of MCV to screen thalassemia, the sensitivity and specificity was 90% and 78%, respectively. When using 28.1pg as the cut-off value of MCH to screen thalassemia, the sensitivity and specificity was 92% and 81%, respectively. Taking genetic testing as the gold standard, comparing the cut-off value of MCV or MCH with MCV or MCH screening method, when screening the 554 pregnant women with Hb electrophoresis alone, the result showed lower sensitivity and higher rate of missed diagnoses. All differences were statistically significant (P<0.05). When screening thalassemia in the study group by using MCV or MCH combined with Hb electrophoresis, the specificity was much lower. All differences were statistically significant (P<0.05). Conclusion The most common α-thalassemia gene types were -α3.7/αα and --SEA/αα in Sichuan. The most common β-thalassemia gene type was CD17. The appropriate cut-off value of MCV and MCH for screening thalassemia among pregnant women in Sichuan was 84.4fl and 28.1pg, respectively, with high sensitivity and specificitym and low rate of missing diagnoses. Using Hb electrophoresis alone for screening thalassemia kept higher rate of missing diagnoses. While using Hb electrophoresis combined with MCV or MCH for screening thalassemia did not reduce the rate of missed diagnoses. |
| keywords:Thalassemia Gravidae Mean corpuscular volume Mean corpuscular hemoglobin Hemoglobin electrophoresis Gene type |
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