应用HPLC方法筛查广州市育龄期夫妇的异常血红蛋白病

发布时间：2018-04-23 18:50

  本文选题：高效液相色谱技术 + 异常血红蛋白病　； 参考：《中国实验血液学杂志》2017年06期

【摘要】：目的:应用高效液相色谱技术(HPLC)检测广州市育龄期夫妇异常血红蛋白病的发生情况。方法:对2008年10月至2016年2月参加广州市出生缺陷干预工程和免费孕前健康体检的育龄期夫妇筛查,应用HPLC检测各种异常血红蛋白,应用Gap-PCR检测法和反向斑点杂交法(RDB)检测常见α、β地中海贫血基因型。结果:HPLC检测样本为11712份,发现134例共8种异常血红蛋白,分别为Hb E 102例(17例合并α地中海贫血),Hb Q-Thailand 20例(18例合并-α~(4.2)/αα,1例合并-α~(4.2)/αα和CD17/N,1例合并-α~(4.2)/αα和βE/N),Hb D-Iran 4例(2例合并-α~(3.7)/αα,1例合并CD41-42/N),Hb G-Honolulu 3例(1例合并-α~(3.7)/αα),Hb J-Bangkok 2例(均合并--~(SEA)/αα),Hb Koln 1例(合并--~(SEA)/αα),Hb Osu-Christiansborg 1例(合并--~(SEA)/αα),Hb Hasharon 1例(合并-α~(3.7)/αα)。异常血红蛋白病的检出率为1.14%(134/11712)。结论:广州地区血红蛋白病的发生率较高,共检出8种异常血红蛋白。应用HPLC技术对育龄期夫妇进行异常血红蛋白病的筛查,可做到早发现,早预防,对优生优育和提高人口素质具有重要意义。
[Abstract]:Objective: to detect abnormal hemoglobin in couples of childbearing age in Guangzhou by high performance liquid chromatography (HPLC). Methods: from October 2008 to February 2016, couples of childbearing age who participated in the intervention project of birth defects and free pre-pregnancy health examination in Guangzhou were screened, and the abnormal hemoglobin was detected by HPLC. Common 伪, 尾 thalassemia genotypes were detected by Gap-PCR and reverse dot blot hybridization. Results 11712 samples were detected by WHP-HPLC, and 8 kinds of abnormal hemoglobin were found in 134 cases. 鍒嗗埆涓篐b E 102渚，

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