MCV、MCH及红细胞脆性试验联合基因检测在地中海贫血诊断中的研究  

Study on the diagnosis of thalassemia by MCV,MCH and erythrocyte fragility test combined with gene detection

作　　者：周文峰 金朝红 梁琳珂 ZHOU Wen-feng;JIN Zhao-hong;LIANG Lin-ke(Baoan District Fuyong People’s Hospital,Shenzhen 518103,China)

机构地区：[1]深圳市宝安区福永人民医院,518103

出　　处：《中国实用医药》2021年第14期80-83,共4页China Practical Medicine

摘　　要：目的研究平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)及红细胞脆性试验(EFT)联合基因检测在地中海贫血(地贫)诊断中的价值。方法选择本院3956例普通患者为研究对象,将224例地贫基因突变的患者设为观察组,另将同期就诊的248例非地贫患者设为对照组。比较观察组中α地贫基因突变患者与对照组的MCV、MCH、EFT水平;比较观察组中β及αβ地贫混合基因突变患者与对照组的MCV、MCH、EFT水平;比较观察组和对照组在MCV、MCH、EFT的单一检出率和三项联合检出率。结果血常规化验发现α地贫患者的MCV、MCH、EFT水平分别为(69.82±6.11)fl、(22.64±2.29)pg、(56.78±4.97)%,均低于对照组的(85.76±7.94)fl、(31.57±3.56)pg、(80.43±7.12)%,差异均具有统计学意义(P<0.05)。β地贫及αβ地贫混合患者的MCV、MCH、EFT水平均低于对照组,差异均具有统计学意义(P<0.05)。观察组MCV、MCH、EFT单一检出率以及三项联合检出率分别为84.82%、82.59%、69.64%、91.52%,均高于对照组的18.15%、16.53%、15.32%、24.60%,差异具有统计学意义(P<0.05)。结论MCV、MCH、EFT用于诊断地贫具有良好的应用价值,联合检测能够提高检出率,可以为潜在的地贫患者及地中海基因携带者提供新的诊断选择方案。Objective To study the value of mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH)and erythrocyte fragility test(EFT)combined with genetic testing in the diagnosis of thalassemia.Methods Of 3956 ordinary patients,224 thalassaemia gene mutation cases were set as the observation group,and 248 non-thalassaemia cases during the same period were set as the control group.Comparison was made on the levels of MCV,MCH,EFT between observation group withαthalassaemia gene mutations and the control group,the levels of MCV,MCH,EFT between the observation group with the mixed gene mutations ofβandαβthalassaemia and the control group,and the single and combined detection rate of MCV,MCH,EFT between the observation group and the control group.Results Routine blood tests found that the levels of MCV,MCH and EFT of patients withα-thalassaemia in the observation group were(69.82±6.11)fl,(22.64±2.29)pg,and(56.78±4.97)%,respectively,which were lower than(85.76±7.94)fl,(31.57±3.56)pg,(80.43±7.12)%in the control group,and the difference was statistically significant(P<0.05).The levels of MCV,MCH and EFT of patients with the mixed gene mutations ofβandαβthalassaemia in the observation group were lower than those in the control group,and the difference was statistically significant(P<0.05).The single and combined detection rate of MCV,MCH,EFT of the observation group were 84.82%,82.59%,69.64%and 91.52%,which were all higher than 18.15%,16.53%,15.32%and 24.60%of the control group,and the difference was statistically significant(P<0.05).Conclusion MCV,MCH and EFT have good practical value in the diagnosis of thalassemia.Combined detection can increase the detection rate,and can provide a new diagnostic option for potential thalassemia patients and mediterranean gene carriers.

关 键 词：地中海贫血 地中海基因检测 红细胞脆性试验 平均红细胞体积 平均红细胞血红蛋白含量 

分 类 号：R556.61[医药卫生—血液循环系统疾病] R440[医药卫生—内科学]