307例非缺失型α-地贫的基因型及血液学特征分析

Genotype and hematological characteristics of 307 cases of non-deletionα-thalassaemia

目的分析广州地区地中海贫血筛查人群非缺失型α-地贫的发生率、基因突变型、构成比和临床特征。方法分析本院近5年诊断为非缺失型α-地贫的患者307例。对所有患者均行地贫基因、血常规和血红蛋白电泳检测。结果 307例非缺失型α-地贫以ααWS/αα最为常见,非缺失型α-地贫患者的MCV值与MCH值整体比正常个体低,携带ααQS等位基因的患者血液学临床表现最重,ααCS较ααQS轻,ααWS的表现最轻。非缺失型HbH病患者中,--SEA/ααCS与--SEA/ααQS均出现血红蛋白H及血红蛋白Barts条带,而--SEA/ααWS未发现。结论在非缺失型α-地贫筛查中,实验员留意受检者的MCV值和MCH值及血红蛋白电泳结果,疑似携带者须做进一步基因检测。

Objective To analyze the incidence,mutation type,composition ratio and clinical characteristics of non-deletion alpha-thalassaemia in thalassaemia screening population in Guangzhou.Methods A retrospective analysis of 307 patients diagnosed with non-deletion α-thalassaemia in our hospital from July 2014 to June 2019 were performed. The thalassemia gene, blood routine and hemoglobin electrophoresis etected in all patients. Results Among the 307 non-deletion alpha-thalassaemias,the genotype of ααWS/αα is the most common. The MCV and MCH values of non-deletion alpha-thalassaemia patients were lower than those of normal individuals. Patients carrying the ααQS allele presented the heaviest clinical manifestations in hematology. ααCS is lighter than ααQSand ααWS performs the lightest. In patients with non-deletive HbH disease,both--SEA/ααCS and--SEA/ααQS showed hemoglobin Hand Barts bands,but--SEA/ααWS was not found. Conclusion In non-deletion alpha-thalassaemia screening,laboratory technician should pay attention to the MCV and MCH values of the subjects and the results of hemoglobin electrophoresis. Once a suspected carrier is found,further genetic testing is required.