摘要
目的分析昆明地区新生儿血红蛋白筛查与地中海贫血基因检测结果,为昆明地区地中海贫血防控体系的构建提供重要参考依据。方法随机抽取昆明地区新生儿1368例行毛细管血红蛋白(Hb)电泳分析,随机抽取所采集的滤纸干血斑标本658例进行地中海贫血基因检测。结果新生儿异常血红蛋白筛查阳性率为7.02%;地中海贫血基因携带率为7.75%,以αα/-α3.7型最为常见,CD26M/N次之。结论昆明地区新生儿异常血红蛋白发生率较本省发生率高,地中海贫血基因突变谱与我国南方其他地区存在差异。
Objective:To analyze the results of neonatal hemoglobin screening and thalassemia gene detection in Kunming,and provide an important reference for the construction of thalassemia prevention and control system in Kunming.Methods:1368 neonates from Kunming were randomly selected for capillary hemoglobin(Hb)electrophoresis analysis,and 658 samples of dried blood spots collected on filter paper were randomly selected for thalassemia gene detection.Results:The positive rate of neonatal abnormal hemoglobin screening was 7.02%;the gene carrying rate of thalassemia was 7.75%,and the most common type wasαα/-α3.7,followed by CD26M/N.Conclusion:The incidence of abnormal hemoglobin in newborns in Kunming is higher than that in Yunnan province.The mutation spectrum of thalassemia genes is different from other regions in southern of China.
作者
何建萍
吕梦欣
邹婕
陆芸
孙永波
钱源
黄烁丹
唐健
HE Jian-ping;LV Meng-xin;ZOU Jie;LU Yun;SUN Yong-bo;QIAN Yuan;HUANG Shuo-dan;TANG Jian(Department of Medical Genetics and Prenatal Diagnosis,Kunming Maternal and Child Health Hospital,Yunnan,Kunming,650031,China;Meizhou Maternal and Child Health Hospital Genetic Disease Control Center,Guangzhou,Meizhou,514012,China;Yunnan Provincial Key Laboratory of Laboratory Medicine,the First Affiliated Hospital of Kunming Medical University,Yunnan,Kunming,650032,China)
出处
《中国优生与遗传杂志》
2020年第4期412-414,476,共4页
Chinese Journal of Birth Health & Heredity
基金
昆明市科技保障民生发展计划项目(昆科计字2019-1-S-25318000001022)
昆明市卫生科技人才培养项目“十百千”工程培养计划(2020-SW(后备)-98)
云南省临床医学中心分中心开放项目(2020LCZXKF-SZ19)
