β^+/β^0-珠蛋白生成障碍性贫血个案报告  

Double heterozygote of β^+/β^0-thalassemia:a case report

作　　者：苏婷 周涛[1] 王玉明[1] 李贵华 胡莹[1] 王清[1] SU Ting;ZHOU Tao;WANG Yuming(Department of Clinical Laboratory,The Second Affiliated Hospital of Kunming Medical University,Kunming 650101,China)

机构地区：[1]昆明医科大学第二附属医院检验科,650101

出　　处：《中国糖尿病杂志》2020年第7期544-546,共3页Chinese Journal of Diabetes

摘　　要：β-珠蛋白生成障碍性贫血是β-珠蛋白基因突变导致β-珠蛋白合成抑制引起的溶血性贫血。β-珠蛋白基因突变部位和类型不同,珠蛋白合成抑制程度也不同。本病例β^+/β^0-珠蛋白生成障碍性贫血双重杂合子患者基因检测证实存在血红蛋白变异体E(HbE),采用罗氏C501全自动生化分析仪、免疫比浊法检测HbA1c结果异常偏低,与美国国家糖化血红蛋白标准化计划指出二代罗氏系统检测HbA1c时的HbE存在对其结果不产生干扰的观点不一致。提示当临床实验室使用罗氏C501全自动生化分析仪检测HbA1c结果异常偏低时,应警惕血红蛋白变异体干扰,进一步完善血红蛋白电泳和基因诊断等相关检查,使用HbA1c监测血糖时应避免漏诊或误诊。Beta-thalassemia(β-thalassemia)is a hemolytic anemia caused by the inhibition of synthesis of beta-globin resulting from a mutation in the beta-globin gene.The degree of inhibition of globin synthesis varies with the location and type of mutation of beta-globin gene.Here we report a patient with double heterozygote ofβ^+/β^0-thalassemia confirmed by genetic test,has a hemoglobin variant hemoglobin E(Hb E).The glycated hemoglobin(HbA1c)detected by the immunoturbidimetry method of Roche C501 automatic biochemical analyzer are abnormally low,which is inconsistent with the opinion of the National Standardization Program for Glycated Hemoglobin that Hb E does not interfere with the result of HbA1c when tested using the Tina-quantⅡassay Roche system.It is suggested that when the levels of HbA1c detected by Roche C501 are abnormally low,it should be alert to the interference of hemoglobin variants.It is necessary to further confirm using the hemoglobin electrophoresis and gene diagnosis to avoid missed diagnosis or misdiagnosis.

关 键 词：β^+/β^0-珠蛋白生成障碍性贫血 血红蛋白E 糖化血红蛋白 

分 类 号：R556.5[医药卫生—血液循环系统疾病]