β-珠蛋白基因突变与红细胞参数的相关研究

Relationship between β-globin gene mutations and red blood cell indices

目的对已明确基因突变的轻型β-珠蛋白生成障碍性贫血患者的红细胞参数进行比较分析,探讨β-珠蛋白基因的突变类型与红细胞参数的相关性。方法分析118例已知基因突变的轻型β-珠蛋白生成障碍性贫血患者的红细胞平均容积、红细胞平均血红蛋白含量、红细胞平均血红蛋白浓度、红细胞体积分布宽度标准差、红细胞体积分布宽度变异系数,对这些参数依据突变类型进行比较。结果在已知β-珠蛋白基因突变中,携带codon41/42(-TTCT)突变的患者红细胞平均容积、红细胞平均血红蛋白含量及红细胞平均血红蛋白浓度高于其它突变患者(P<0.05),而红细胞体积分布宽度变异系数低于其它突变患者(P<0.05)。结论 Codon41/42(-TTCT)突变引起的表型轻于其它几种β-珠蛋白基因突变。

Objective To compare red blood cell indices from β-thalassemia minor patients with known β-globin gene mutations,and explore relationships between β-globin gene mutations and red blood cell indices.Methods Red blood cell indices including mean cell volume,mean cell hemoglobin,mean corpuscular hemoglobin concentration,red cell distribution width-standard deviation,and red cell distribution width-coefficient of variation were collected from 118 β-thalassemia minor patients with known mutations.These indices were compared according to β-globin gene mutations.Results Patients with codon41/42（-TTCT） mutation in β-globin gene displayed significantly higher mean cell volume,mean cell hemoglobin,mean corpuscular hemoglobin concentration,and significantly lower red cell distribution width-coefficient of variation than other mutations for β-thalassemia minor patients（P0.05）.Conclusion Phenotype caused by codon41/42（-TTCT） mutation may be milder than other mutations in β-globin gene.