应用HPLC方法筛查广州市育龄期夫妇的异常血红蛋白病

Screening Abnormal Hemoglobin Diseases for Couples of Childbearing Age in Guangzhou City by HPLC

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。

Objective： To investigate the incidence and common types of abnormal hemoglobin diseases of the couples at childbearing age by using high performance liquid chromatography（ HPLC） in Guangzhou city. Methods： The couple of childbearing age in the Birth defect intervention project and Free pre pregnancy health examination were screened from October 2008 to February 2016 in Guangzhou city. The HPLC was used to detect abnormal hemoglobin; The Gap-PCR and reverse dot blot（ RDB） were used to detect thalassemia gene deletions. Results： The detection rate of hemoglobinopathies was 1. 14% in the couples of childbearing age in Guangzhou city. 8 kinds of abnormal hemoglobin were detected： Hb E in 102 cases（ 17 cases with α thalassemia）,Hb Q-Thailand in 20 cases（ 18 cases with α thalassemia,2 cases with α and β thalassemia）,Hb D-Iran in 4 cases（ 2 cases with α thalassemia,1 case with α and β thalassemia）,Hb G-Honolulu in 3 cases（ 1 case with αthalassemia）,Hb J-Bangkok in 2 cases（ 2 cases with α thalassemia）,Hb Osu-Christiansborg in 1 case（ with α thalassemia）,Hb Hasharon in 1 case（ with α thalassemia）,Hb Koln in 1 case（ with α thalassemia）. Conclusion： The incidence of abnormal hemoglobin diseases in Guangzhou area has been found to be more high,8 kinds of abnormal hemoglobin are found by HPLC,the HPLC is an effective way to screen the couples of childbearing age for β thalassemia and hemoglobinopathies.