红细胞分析参数辅助诊断珠蛋白生成障碍性贫血亚型的研究

Study on red blood cell analysis parameters assisting in the diagnosis of thalassemia subtype

目的分析鄂东南地区珠蛋白生成障碍性贫血(简称地贫)基因型分布情况,研究红细胞分析参数与地贫亚型之间的相关性,辅助诊断地贫亚型。方法使用亚能生物YN-H96型全自动核酸分子杂交仪及亚能地贫基因检测试剂盒检测地贫患者各基因型。希森美康XN-9000全自动血细胞仪及其配套试剂分析患者红细胞各相关参数,使用SPSS19.0及GraphPad Prism 6软件进行统计学分析。结果检出地贫基因携带者共103例,其中携带α地贫基因59例,α地贫基因中--^(SEA)/αα(东南亚型)及-α^(3.7)/αα(右侧α缺失)阳性率较高。携带β地贫基因42例,其中654M (C→T)、41-42M (-TTCT)阳性率较高。携带αβ复合地贫基因型1例,为4.2杂合缺失并654M杂合突变;α缺失复合α突变1例,为3.7缺失复合CSM突变。α地贫基因携带者与无地贫基因携带者红细胞计数(RBC)、红细胞平均体积(MCV)、平均红细胞血红蛋白含量(MCH)、平均红细胞血红蛋白浓度(MCHC)比较,差异均有统计学意义(P<0.05);β地贫基因携带者与无地贫基因携带者MCV、MCH、MCHC、红细胞体积分布宽度-变异系数(RDW-CV)比较,差异均有统计学意义(P<0.05);α地贫基因携带者与β地贫基因携带者RBC、血细胞比容(HCT)、血红蛋白浓度(HGB)、MCHC、RDW-CV、网织红细胞(RET)比较,差异均有统计学意义(P<0.05)。结论红细胞分析参数RBC、HCT、HGB、MCV、MCH、MCHC、RDW-CV、RET能够有效辅助鉴别诊断地贫亚型。

Objective To analyze the distribution of thalassemia genotypes in Southeast Hubei, study the correlation between red blood cell analysis parameters and thalassemia genotypes, and assist in the diagnosis of thalassemia genotypes.Methods The YN-H96 automatic nucleicacid molecular hybridization instrument and the thalassemia gene detection kit of Yaneng Biosciences were used to detect the subtypes of the thalassemia patients.Sysmex XN-9000 automatic blood cytometer and its supporting reagents analyze the relevant parameters of patients′ red blood cells, and SPSS19.0 and GraphPad Prism 6 software were used for statistical analysis.Results A total of 103 cases of thalassemia gene carriers were detected, of which 59 were α thalassemia genes.The positive rates of --^(SEA)/αα(Southeast Asian type) and -α^(3.7)/αα(α was missing on the right) were higher in α thalassemia genes.β thalassemia genes was positive in 42 cases, and the positive rates of 654 M(C→T) and 41-42 M(-TTCT) were higher.One case of αβ complex thalassemia genotype had 4.2 heterozygous deletion and 654 M heterozygous mutation.One case of α deletion compound α mutation was 3.7 deletion compound CSM mutation.Compared with non-thalassemia gene carriers, the alpha thalassemia gene carriers had statistical differences in RBC,MCV,MCH,MCHC(P<0.05).Compared with non-thalassemia gene carriers, the β thalassemia gene carriers showed statistical differences in data such as MCV,MCH,MCHC,RDW-CV(P<0.05).There were statistically significant differences in RBC,HCT,HGB,MCHC,RDW-CV,RET between α thalassemia gene carriers and β thalassemia gene carriers(P<0.05).Conclusion The red blood cell analysis parameters RBC,HCT,HGB,MCV,MCH,MCHC,RDW-CV,RET can effectively assist in the differential diagnosis of the subtypes of thalassemia genes.