1例泰国型α-地中海贫血的实验室诊断  

Laboratory diagnosis of a case of Thailand type thalassemia

作　　者：赵文忠[1] 罗招凡[2] 朱志勇[1] ZHAO Wen-zhong;LUO Zhao-fan;ZHU Zhi-yong(Family Planning Research Institute of Guangdong, Guangzhou, Guangdong 510600 ;Department of Clinical Laboratory, the Seventh Affiliated Hospital of Sun Yat-sen University, Shenzhen, Guangdong 518017, China)

机构地区：[1]广东省计划生育科学技术研究所国家卫计委男性生殖与遗传重点实验室,广东广州510600 [2]中山大学附属第七医院检验科,广东深圳518017

出　　处：《热带医学杂志》2018年第10期1287-1288,1303,共3页Journal of Tropical Medicine

基　　金：广东省科技计划项目(2011B060300035)

摘　　要：目的对1例泰国型α-地中海贫血患者进行实验室诊断。方法血常规检测平均红细胞体积(MCV)和平均红细胞血红蛋白含量(MCH),血样本提取基因,导流杂交法常规检测地贫基因型。采用Gap-PCR法检测泰国型α-地贫,对特异片断测序并进行基因分析。结果血常规显示,患者MCV 77.2 fl,MCH 25.4 pg。常规地贫基因检测未发现阳性杂交点;Gap-PCR法检测现一特异泰国型α-地贫片段,测序法确认共33 763 bp缺失。结论该地贫患者基因型为泰国型。Objective To perform a laboratory diagnosis of a patient with Thailand type α-thalassemia. Methods Blood samples were routinely tested for mean cell volume（MCV）and mean corpusular hemoglobin（MCH）. DNA was extracted from blood samples,and thalassemia genotypes were routinely detected by flow-through-hybridization. The Thailand type α-thalassemia was detected by Gap-PCR method,and the specific fragment was sequenced and subjected to gene analysis.Results The patient had lower MCV and MCH,and no positive points were found in the conventional thalassemia gene test.Gap-PCR method was used to detect the current specific Thailand type α-thalassemia fragment,and the sequencing method confirmed that there was a 33 763 bp deletion. Conclusion The genotype of the thalassemia patient was of Thailand type.

关 键 词：地中海贫血 泰国型 MCV 

分 类 号：R556.61[医药卫生—血液循环系统疾病]