不同类型珠蛋白生成障碍性贫血的基因型和血液学指标特征

目的分析血常规指标和血红蛋白(Hb)电泳在不同类型珠蛋白生成障碍性贫血(以下简称地贫)中的差异及其对地贫筛查的重要意义。方法选取2017年1月至2019年3月遵义市第一人民医院/遵义医科大学第三附属医院经分子诊断确诊的地贫患者286例(地贫组)和健康对照者200例(对照组)为研究对象,行血常规及Hb电泳检测,并分析平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)和HbA2等血液学指标在不同类型地贫中的差异,及其单项检测及联合检测对地贫诊断的灵敏度、特异度和准确度。结果286例确诊的地贫患者中,α、β和α/β复合型地贫占比分别为39.51%、58.74%和1.75%。α和β地贫患者的MCV、MCH,以及β地贫的HbA2、HbF与健康对照者比较,差异有统计学意义(P<0.05)。MCV、MCH和HbA2各单项指标检测诊断地贫的灵敏度和特异度分别为90.56%、91.96%、80.07%和76.00%、81.50%、96.50%;平行联合检测的灵敏度、特异度、准确度分别为100.00%、79.50%、91.56%;系列联合检测的灵敏度、特异度、准确度分别为79.37%、100.00%、87.86%。平行联合检测的灵敏度明显高于各单项检测,差异有统计学意义(P<0.05),系列联合检测的特异度明显高于各单项检测,差异有统计学意义(P<0.05)。结论将MCV、MCH和HbA2联合检测作为地贫的筛查指标具有较高的临床应用价值。

Genotype and hematological phenotype of different types of thalassemia

Objective To analyze the differences of blood routine index,hemoglobin(Hb)electrophoresis in different types of thalassemia and its significance for thalassemia screening.Methods A total of 286 cases of thalassemia diagnosed by molecular diagnosis method and 200 healthy controls in the First People′s Hospital of Zunyi/the Third Affiliated Hospital of Zunyi Medical University from January 2017 to March 2019 were selected for routine blood analysis and hemoglobin electrophoresis analysis.The differences of mean red blood cell volume(MCV),mean red blood cell hemoglobin(MCH)and HbA2 in different types of thalassemia and the sensitivity,specificity,accuracy of single and combined tests for the diagnosis of thalassemia were analyzed.Results Among the 286 diagnosed thalassemia cases,the proportions ofα,βandα/βthalassemia were 39.51%,58.74%and 1.75%respectively.The MCV and MCH inαandβthalassemia patients,and the HbA2 and HbF inβthalassemia were significantly different from those of healthy controls(P<0.05),the sensitivity and specificity of MCV,MCH and HbA2 for the individual detection of thalassemia were 90.56%,91.96%,80.07%and 76.00%,81.50%and 96.50%respectively.The sensitivity,specificity and accuracy of parallel combined of MCV,MCH and HbA2 tests were 100.00%,79.50%and 91.56%,and those of serial combined test were 79.37%,100.00%and 87.86%.There were significant differences on sensitivity between single test and the parallel combination of three indicators(P<0.05).There were significant differences on specificity between single test and the serial combination of three indicators(P<0.05).Conclusion The combination of MCV,MCH and HbA2 might be more valuable for screening of thalassemia.