南宁育龄人群β地中海贫血筛查及血红蛋白A_2截断值的确定  

Screening β-thalassemia in Nanning people of reproductive age and ascertaining the cutoff value of HbA_2

作　　者：张新华[1] 周艳洁 罗瑞贵[1] 李平萍[1] 阮丽明 兰小英[1] 黄蒙莎[1] 吴志奎[3] 王荣新[1] 

机构地区：[1]解放军第三○三医院血液病科,南宁530021 [2]南宁市计划生育服务中心 [3]中国中医科学院广安门医院分子生物学研究室

出　　处：《中华检验医学杂志》2007年第1期53-55,共3页Chinese Journal of Laboratory Medicine

基　　金：国家自然科学基金(90409003);广西自然科学基金(桂科自0447104)

摘　　要：目的调查南宁市农村育龄人群β地中海贫血(地贫)基因携带率,确定四种检测系统诊断β地贫的血红蛋白 A_2(HbA_2)截断值。方法高效液相色谱法(HPLC)检测育龄青年2 044名,其中430例(地贫筛查中随机选择的75对夫妇以及血细胞分析提示夫妇双方或一方为地贫表型阳性的育龄青年280例)同步进行地贫基因分析和3种碱性电泳法[法国 Sebia 全自动电泳系统(Sebia)、国产 Sang Te 全自动电泳系统(Sang Te)和 pH8.6醋酸纤维膜电泳法(pH8.6)]的检测,以基因分析结果为金标准通过受试者工作曲线(ROC 曲线)确定 HPLC 和3种碱性电泳法诊断β地贫的HbA_2截断值。结果在2 044名育龄青年中检出β地贫163例,携带率为7.97%,随机选择的75对夫妇地贫基因分析确诊的β地贫为13例,携带率为8.67%。诊断β地贫杂合子的 HbA2截断值分别为 HPLC≥4.35%、Sebia≥3.65%,Sang Te≥4.58%,pH8.6≥2.66%。结论南宁农村育龄人群β地贫基因携带率高,HbA_2检测结果有人种差异,应重新通过 ROC 曲线确定截断值,β地贫筛查尽量不使用 pH8.6醋酸纤维膜电泳法。Objective To investigate the carrier rate of 13-thalassemia in Nauning people of reproductive age and to ascertain the cutoff value of bemnglobin A2 （HbA2） for diagnosing β-thalassemia by use of 4 kinds of detection system. Methods 2044 cases of reproductive age youth were detected by high performance liquid chromatography （HPLC）, Among them, 430 cases （75 couples randomly selected for thalassemia screening, 280 cases who were binted that one or both of the couple were positive for thalassemia phenotype through hemocyte analysis ） carry out thalassemia gone detection and 3 kinds of alkalinous electrophoresis （Sebia auto electropboresis, France, Sebia; Sang Te auto electrophoresis system, Sang Te; Acetic acid fibrous membrane electropbores at pH 8, 6, pH8. 6） in synchronize. Gene analysis was allocated to be gold standard and cutoff values of HbA2 for HPLC and 3 kinds of alkalinity electorphoresis methods for diagnosing β-thalaesemia were ascertained by Receptor operating curve （ROC）, Resluts 163 cases of β- thalassemia were detected in 2044 reproductive youth, thus carrier rate was 7, 97%. Among the 75 couples randomly selected, 13 cases were diagnosed β-thalassemia by gene analysis, and carrier rate is 8. 67%, Cutoff value of HbA2 for diagnosing β-thalassemia by HPLC was≥4. 35% , by Sebia was≥3.65% , Sang Te was≥4.58%, pH8.6 was≥2.66%, respectively. Conclusions β-thalassemia carrier rate is high in Nanning reproductive youth. Detection result of HbA2 is of population variance. The cutoff value should be ascertained by ROC, Acetic acid fibrous membrane electrophoresis should be avoided in β-thalassemia screening.

关 键 词：Β地中海贫血 色谱法 高压液相 ROC曲线 

分 类 号：R556[医药卫生—血液循环系统疾病] R446.1[医药卫生—内科学]