异常血红蛋白Hb New York的分子诊断及血液学特征分析  

Molecular diagnosis and hematologic characteristics of patients with abnormal hemoglobin New York

作　　者：卢建[1] 王继成[1] 姚翠泽 张艳霞[1] 刘玲[1] 骆明勇[1] 秦丹卿[1] Lu Jian, Wang Jicheng, Yao Cuize, Zhang Yanxia, Liu Ling, Luo Mingyong, Qin Danqing.(Medical Genetics Center of Guangdong Women and Children Hospital,511442 Guangzhou,China)

机构地区：[1]广东省妇幼保健院医学遗传中心妇幼代谢与遗传病重点实验室,广州511442

出　　处：《新医学》2018年第6期421-424,共4页Journal of New Medicine

基　　金：广东省科技计划项目(2016A020218011)

摘　　要：目的对34例异常血红蛋白Hb New York患者进行基因诊断并分析其血液学特征。方法应用血常规检测和血红蛋白电泳对所有采集的外周血标本进行分析,使用gap-PCR、PCR-RDB和DNA测序方法对所有提取的DNA标本进行β珠蛋白基因的鉴定。结果经基因检测,25例病例为单纯的Hb New York杂合子,其红细胞参数表现为正常或轻度降低,血红蛋白电泳提示43.9%~52.0%的Hb K异常带;1例为Hb New York合并β0-地中海贫血,表现为明显降低的红细胞参数和升高的Hb K(91.8%);8例为Hb New York合并α-地中海贫血,其血液学特征也有不同的改变。结论单纯的Hb New York杂合子无明显的临床表现,但合并其他地中海贫血时可改变其血液学特征。Objective To conduct molecular diagnosis and investigate the hematologic characteristics of 34 cases with abnormal hemoglobin Hb New York. Methods The collected peripheral blood samples were subject to routine blood test and hemoglobin electrophoresis. Gap-PCR, PCR-RDB and DNA sequencing were adopted to identify the βglobin gene of the extracted DNA samples. Results Gene detection revealed that 25 cases were identified with heterozygote of Hb New York and presented with normal or a slight decrease in the hemoglobin level. Hemoglobin electrophoresis prompted 43.9%-52.0% of abnormal Hb K band. One case was diagnosed with Hb New York complicated with β 0-thalassemia, manifested with a significant decrease in the hemoglobin level and an increase in Hb K （91.8% ） . Eight patients were diagnosed with Hb New York complicated with α-thalassemia, presenting with certain changes in the hematologic characteristics. Conclusion Patients with the heterozygote of Hb New York present with no significant clinical symptoms. Those complicated with other thalassemia are manifested with certain changes in the hematologic characteristics.

关 键 词：HB New YORK 地中海贫血 血液学特征 

分 类 号：R556.7[医药卫生—血液循环系统疾病]