1826例育龄期妇女地中海贫血筛查结果研究.docVIP

1826例育龄期妇女地中海贫血筛查结果研究【摘要】 目的 了解新兴县育龄期妇女中地海贫血的发生情况, 充分认识地中海贫血筛查在婚检、孕检、产检的重要意义。方法 对1826例育龄期妇女进行地中海贫血初筛,并应用法国Sebia 全自动电泳分析系统进行血红蛋白电泳,通过检测Hb各组分的含量,初步分为属于α地贫或β地贫,再通过基因诊断确诊。结果 1826例血标本中, 检出地中海贫血及地中海贫血基因携带者203例, 占11.12%。结论 广东省云浮市新兴县属地中海贫血高发区,因此开展婚前、产前检查十分重要,对降低出生缺陷,提高出生人口素质,具有十分重要而积极的社会意义。 【关键词】 地中海贫血;血红蛋白电泳;育龄期妇女 1826 cases of thalassemia screening of women of childbearing age LIANG Hua-ming,LI Jin-mei. Xinxing Children and Women Health Hosipital Xinxing 527400,China 【Abstract】 Objective To understand in Xinxing County, the incidence of anemia in women of childbearing age, and fully understand significance thalassemia screening in pre-marital examination, pregnancy testing, production inspection.Methods 1826 cases of thalassemia screening for women of childbearing age, and the use of French Sebia fully automated electrophoresis analysis system, hemoglobin electrophoresis, by detecting the Hb content of each component was initially divided into two belong to α-thalassemia or β-thalassemia, and through the genetic diagnosis confirmed. Results 1826 cases of blood samples, the detection of thalassemia, and thalassemia gene carriers 203 cases, accounting for 11.12%. Conclusion Xinxing County, Yunfu City, Guangdong Province, is a high incidence of thalassemia, therefore premarital, prenatal care is important in reducing birth defects, improve the quality of newborn babies has a very important and positive social significance. 【Key words】 Thalassemia;Hemoglobin electrophoresis;Women of childbearing age 作者单位:527400广东省新兴县妇幼保健院 地中海贫血(Thalassemia)又称珠蛋白生成障碍性贫血,是指由于血红蛋白分子结构的异常或合成速率的变化而引起的遗传病,该病的临床症状轻重不一,大多表现为慢性进行性溶血性贫血。本病以地中海沿岸国家和东南亚各国多见,我国以广东、广西、海南等省区发病率较高,被世界卫生组织列为危害人类健康的6种常见病之一。据广东省流行病学调查,α地中海贫血杂合子为7.3 %,β地中海贫血携带者为1.83 %～3.36 %,合计近10 % ,对人们的健康和优生优育构成了很大的威胁。现把笔者自2009年3月至2010年2月1826例新兴县籍育龄期妇女进行地中海贫血筛查及基因诊断的情况报道如下。 1 资料与方法 1.1 对象和材料 新兴县籍育龄期妇女,2009年3月至2010年2月到新兴县妇幼保健院作婚前和产前检查的育龄期妇女,共筛查1826人,年龄18~48岁。抽取静脉血两管,其中一管2 ml EDTA-K2抗凝,用来做血常规和血红蛋白电泳,另一管2 ml ACD抗凝,用来