异常血红蛋白Q⁃Thailand合并缺失型β-地中海贫血的实验室分析  

Laboratory analysis of abnormal hemoglobin Q⁃Thailand combined with deletionalβ⁃thalassemia

作　　者：张蕾 黎杏苹 李博红 尹珊珊 冯晴 吴维青 ZHANG Lei;LI Xingping;LI Bohong;YIN Shanshan;FENG Qing;WU Weiqing(Medical Genetics Center,Shenzhen Maternity and Child Healthtcare Hospital Affliliated to Southern Medical University,Shenzhen 518017,Guangdong,China)

机构地区：[1]南方医科大学附属深圳妇幼保健院医学遗传中心,广东深圳518017

出　　处：《临床检验杂志》2023年第4期254-257,共4页Chinese Journal of Clinical Laboratory Science

基　　金：深圳市科技创新委员会科技计划(KJYY20180703173402020)。

摘　　要：目的对血红蛋白组分出现疑似异常血红蛋白Q⁃Thailand(HbQ⁃Thailand)且存在小细胞低色素性表现的2例患者进行基因型鉴定,并分析其血液学参数特征,为临床遗传咨询提供参考数据。方法2例患者样本进行血液学指标检测,用跨越断裂点聚合酶链反应(Gap⁃PCR)及Sanger测序方法进行珠蛋白基因突变检测,并分析2例患者血液学表型特征和血红蛋白毛细管电泳结果。结果患者1为HbQ⁃Thailand杂合合并α-地贫⁃α4.2缺失杂合和β-地贫Taiwanese型缺失杂合,患者2为HbQ⁃Thailand杂合合并⁃α4.2缺失杂合和β-地贫Gγ+(Aγδβ)0型缺失杂合;2例患者均表现为小细胞低色素表型特征,并存在血红蛋白毛细管电泳Z7条带增高及出现Z1区异常带。结论当HbQ⁃Thailand合并β-地贫基因缺失时,血红蛋白组分毛细管电泳分析中HbQ⁃Thailand与HbF重叠,需要对其进行鉴别,或同时进行β-地贫基因缺失检测以防漏检。Objective To identify the genotypes of two patients with suspected abnormal hemoglobin Q⁃Thailand(HbQ⁃Thailand)and microcytic hypochromic anemia,and analyze the characteristics of their hematological parameters,so as to provide reference data for clinical genetic counseling.Methods The hematological indexes of two patients were detected.The mutations of globin gene were de⁃termined by Gap⁃PCR and Sanger sequencing.Meanwhile,the hematological phenotypic characteristics and capillary electrophoresis of hemoglobin results of the two patients were analyzed.Results The genotype of patient 1 was the heterozygous deletion of⁃α4.2⁃Q⁃Thailand/ααcombined withβN/βTaiwan Residents,and that of patient 2 was the heterozygous deletion of⁃α4.2⁃Q⁃Thailand/ααcombined withβN/βGγ+(Aγδβ)0.Their hematological characteristics showed microcytic hypochromic anemia and elevated Z7 band and abnormal Z1 band in the capillary electrophoresis of hemoglobin.Conclusion When HbQ⁃Thailand is combined with deletionalβ⁃thalassemia,HbQ⁃Thailand overlaps with HbF in the capillary electrophoresis of hemoglobin,which requires the identification or simultaneous analysis of deletionalβ⁃thalassemia to avoid a misdiagnosis.

关 键 词：异常血红蛋白 血红蛋白Q⁃Thailand 缺失型β地中海贫血 血红蛋白F 

分 类 号：R446[医药卫生—诊断学]