Screening value of hematological indexes in four types common α thalassemia
-
摘要: 目的 探讨平均血红蛋白量(MCH)、平均红细胞体积(MCV)、红细胞分布宽度(RDW-CV)和血红蛋白A2(HbA2)在不同基因型α地中海贫血中的筛查价值。方法 收集2017年3月至2020年12月经基因检测确诊为α地中海贫血的患者560例, 根据基因型分为--SEA/αα、-α3.7/αα、-α4.2/αα和--SEA/-α3.7 4个组, 选取同时期健康体检者300例作为对照组, 进行血细胞常规分析和血红蛋白电泳测定。通过ROC曲线确定MCH、MCV、RDW-CV和HbA2在不同基因型α地中海贫血中的最佳截断值。结果 与对照组比较, 研究组MCH、MCV、RDW-CV和HbA2差异均有统计学意义(P< 0.05)；不同基因型α地中海贫血MCH、MCV、RDW-CV和HbA2比较, 差异有统计学意义(P< 0.05)。MCV诊断--SEA/αα、-α3.7/αα、-α4.2/αα和--SEA/-α3.7地中海贫血的最佳截断值分别为78.45 fl、83.15 fl、83.45 fl、75.70 fl；MCH诊断的最佳截断值分别为24.35 pg、27.45 pg、27.65 pg、25.00 pg；RDW-CV诊断的最佳截断值分别为13.75%、12.75%、13.35%、18.70%；HbA2诊断的最佳截断值分别为2.65%、2.75%、2.95%和2.35%。结论 MCH和MCV对4种基因型地中海贫血均有较高的诊断价值, RDW-CV和HbA2诊断--SEA/-α3.7价值最高, 其次是-SEA/αα, 诊断-α3.7/αα和-α4.2/αα价值较低。Abstract: Objective To investigate the value expression of mean corpuscular hemoglobin(MCH), mean corpuscular volume(MCV), red blood cell distribution with(RDW-CV) and hemoglobin A2(HbA2) in α-thalassemia of different genotypes.Methods A total of 560 patients who diagnosed as α-thalassemia in our hospital from March 2017 to December 2020 were collected. They were divided into 4 groups according to the genotype: --SEA/αα, -α3.7/αα, -α4.2/αα and --SEA/-α3.7. And 300 cases of healthy physical examination in the same period were selected as the control group. Routine blood cell analysis and hemoglobin electrophoresis were performed. The expression of MCH, MCV, RDW-CV and HbA2 in different genotypes was determined by ROC curve the best cutoff value in α-thalassemia.Results Compared with the control group, there was significant differences in MCH, MCV, RDW-CV and HbA2 in α-thalassemia group(P< 0.05). There was significant differences in MCH, MCV, RDW-CV and HbA2 in different genotypes α-thalassemia(P< 0.05). The best cutoff values of MCH for the diagnosis of thalassemia --SEA/αα, -α3.7/αα, -α4.2/αα and --SEA/-α3.7were 24.35 pg, 27.45 pg, 27.65 pg and 25.00 pg respectively. The best cutoff values of MCV for the diagnosis of thalassemia --SEA/αα, -α3.7/αα, -α4.2/αα and --SEA/-α3.7were79.15 fl, 84.05fl, 83.45 fl and 75.70 fl respectively. The best cutoff values of RDW-CV for the diagnosis of thalassemia --SEA/αα, -α3.7/αα, -α4.2/αα and --SEA/-α3.7were 13.75%, 12.95%, 13.35% and 17.30% respectively. The best cutoff values of HbA2 for the diagnosis of thalassemia --SEA/αα、-α3.7/αα、-α4.2/αα and --SEA/-α3.7were 2.65%, 2.75%, 2.95% and 2.35% respectively.Conclusion MCH and MCV have high diagnostic value on --SEA/αα, -α3.7/αα, -α4.2/αα and --SEA/-α3.7thalassemia. The diagnostic value of RDW-CV and HbA2 was the highest on --SEA/-α3.7, followed by --SEA/αα, and lower on -α3.7/αα and -α4.2/αα.
-
Key words:
- α-thalassemia /
- genotypes /
- receiver operating characteristics /
- hematological indexes
-
-
表 1 2组MCH、MCV、RDW-CV与HbA2比较
X±S 组别 MCH/pg- MCV/fl RDW-CV/% HbA2/% 对照组 28.96±1.56 86.21±1.56 12.90±0.73 2.84±0.22 研究组 21.98±3.51 70.14±8.68 15.98±3.51 2.48±0.39 差值及95%CI 6.98(6.55~7.41) 16.07(14.95~17.19) -3.07(-3.44~2.71) 0.36(0.30~0.41) t 31.59 28.23 -16.51 13.12 P < 0.001 < 0.001 < 0.001 < 0.001 
下载: 导出CSV
表 2 MCH、MCV、RDW-CV与HbA2在不同基因型α地中海贫血中的比较
X±S 组别 MCH/pg MCV/fl RDW-CV/% HbA2/% --SEA/αα 20.94±2.25 67.42±5.42 15.87±2.84 2.52±0.23 -α3.7/αα 25.26±3.37 78.47±7.50 14.48±2.96 2.64±0.27 -α4.2/αα 25.78±2.29 79.31±5.66 13.90±2.21 2.69±0.29 --SEA/-α3.7 17.56±2.36 59.34±8.99 22.51±2.56 1.61±0.49 F 114.86 101.32 79.27 47.78 P < 0.001 < 0.001 < 0.001 < 0.001
下载: 导出CSV
表 3 MCV、MCH、RDW-CV和HbA2指标分析不同基因型的α地中海贫血
分组指标 --SEA/αα -α3.7/αα -α4.2/αα --SEA/-α3.7 MCV/fl 曲线下面积 0.995 0.875 0.900 0.994 最佳截断值 78.450 83.150 83.450 75.700 敏感度 0.978 0.784 0.93 0.958 特异度 0.990 0.823 0.797 0.997 MCH/pg 曲线下面积 0.997 0.930 0.949 1.000 最佳截断值 24.350 27.450 27.650 25.000 敏感度 0.975 0.845 0.965 1.000 特异度 0.975 0.907 0.873 0.997 RDW-CV/% 曲线下面积 0.956 0.740 0.723 0.998 最佳截断值 13.750 12.750 13.350 18.700 敏感度 0.930 0.794 0.579 1.000 特异度 0.877 0.563 0.81 0.997 HbA2/% 曲线下面积 0.887 0.746 0.695 0.991 最佳截断值 2.650 2.750 2.950 2.350 敏感度 0.774 0.680 0.947 0.979 特异度 0.847 0.707 0.327 0.993
下载: 导出CSV
-
[1] Lee JS, Cho SI, Park SS, et al. Molecular basis and diagnosis of thalassemia[J]. Blood Res, 2021, 56(S1): S39-S43. doi: 10.5045/br.2021.2020332
[2] Shafique F, Ali S, Almansouri T, et al. Thalassemia, a human blood disorder[J]. Braz J Biol, 2021, 83: e246062.
[3] 叶丽花, 潘慧娟, 胡君燕, 等. 920例地中海贫血基因突变类型分析[J]. 中国实验血液学杂志, 2019, 27(2): 545-548. https://www.cnki.com.cn/Article/CJFDTOTAL-XYSY201902042.htm
[4] 卿吉琳, 陈柳燕, 谭卫红, 等. 泰国型α缺失地中海贫血的快速基因诊断方法的建立及其临床应用[J]. 临床血液学杂志, 2021, 34(4): 229-236. https://www.cnki.com.cn/Article/CJFDTOTAL-LCXZ202104002.htm
[5] Tan M, Bai Y, Zhang X, et al. Early genetic screening uncovered a high prevalence of thalassemia among 18 309 neonates in Guizhou, China[J]. Clin Genet, 2021, 99(5): 704-712. doi: 10.1111/cge.13923
[6] Lin PC, Chang TT, Liao YM, et al. Clinical Features and Genotypes of Patients with Hemoglobin H Disease in Taiwan[J]. Lab Med, 2019, 50(2): 168-173. doi: 10.1093/labmed/lmy043
[7] Zou J, Huang S, Xi H, et al. Application of an optimized interpretation model in capillary hemoglobin electrophoresis for newborn thalassemia screening[J]. Int J Lab Hematol, 2022, (1): 223-228.
[8] 裴元元, 冉健, 丛潇怡, 等. 血红蛋白A2筛查地中海贫血截断值的探讨[J]. 中国妇幼保健, 2019, 34(1): 128-130. https://www.cnki.com.cn/Article/CJFDTOTAL-ZFYB201901043.htm
[9] Wichian P, Yamsri S, Sanchaisuriya K, et al. Whole Blood PCR for Rapid Screening of alpha(0)-Thalassemia[J]. Ann Clin Lab Sci, 2018, 48(2): 231-235.
[10] 陈明发, 黄闽忠, 林泉, 等. 中国福建南平地区地中海贫血基因突变类型研究[J]. 中国实验血液学杂志, 2020, 28(3): 918—926。 https://www.cnki.com.cn/Article/CJFDTOTAL-XYSY202003038.htm
[11] 谢屿平, 曹颖平, 祝先进, 等. 血液学指标在中国福建地区α-地中海贫血筛查中的价值[J]. 中国实验血液学杂志, 2019, 27(1): 165-169. https://www.cnki.com.cn/Article/CJFDTOTAL-XYSY201901029.htm
[12] Viprakasit V, Ekwattanakit S. Clinical classification, screening and diagnosis for thalassemia[J]. Hematol Oncol Clin North Am, 2018, 32(2): 193-211. doi: 10.1016/j.hoc.2017.11.006
-
图(2)
表(3)
计量
- 文章访问数: 1169
- PDF下载数: 1139
- 施引文献: 0