[1]屈艳霞,李　坚,陈桂兰,等.广州地区婚前孕前人群珠蛋白生成障碍性贫血基因检测结果分析[J].现代检验医学杂志,2020,35(03):15-19.[doi:10.3969/j.issn.1671-7414.2020.03.004]
　QU Yan-xia,LI Jian,CHEN Gui-lan,et al.Analysis on the Results of Thalassemia Gene Detection in Pre-Marital and Pre-Pregnancy Population of Guangzhou[J].Journal of Modern Laboratory Medicine,2020,35(03):15-19.[doi:10.3969/j.issn.1671-7414.2020.03.004]
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广州地区婚前孕前人群珠蛋白生成障碍性贫血基因检测结果分析()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第35卷
期数:
2020年03期
页码:
15-19
栏目:
论著
出版日期:
2020-07-20

文章信息/Info

Title:
Analysis on the Results of Thalassemia Gene Detection in Pre-Marital and Pre-Pregnancy Population of Guangzhou
文章编号:
1671-7414（2020）03-015-05
作者:
屈艳霞1; 李　坚1; 陈桂兰1; 江　帆1; 唐　盈1; 黄　霜2; 伍军平3; 唐林国1
（1. 广州市妇女儿童医疗中心，广州　510623；2. 广州市番禺区何贤纪念医院，广州　511400； 3. 广州市花都区妇幼保健院，广州　510800）
Author(s):
QU Yan-xia1; LI Jian1; CHEN Gui-lan1;  JIANG Fan1; TANG Ying1; HUANG Shuang2; WU Jun-ping3; TANG Lin-guo1
（1. Guangzhou Women and Children’s Medical Center, Guangzhou 510623, China;2. Guangzhou Panyu Hexian Memorial Hospital, Guangzhou 511400, China; 3. Guangzhou Huadu District Maternal and Child Health Hospital, Guangzhou 510800, China）
关键词:
珠蛋白生成障碍性贫血; 婚前; 孕前; 人群筛查; 基因诊断
分类号:
R556.61；Q786
DOI:
10.3969/j.issn.1671-7414.2020.03.004
摘要:
目的　了解广州地区婚前和孕前人群珠蛋白生成障碍性贫血的基因突变类型和构成比，并对其防控效果进行探 讨。方法　选取2018 年参加广州市免费婚前和孕前优生健康检查项目中血细胞检测初筛阳性夫妇12 572 对，进行血红 蛋白电泳及基因检测。随访高风险家庭至孕后，并追踪其产前诊断结果。结果　①经基因确诊珠蛋白生成障碍性贫血携 带者10 209 例，其中α- 为7 026 例，β- 为2 805 例，αβ 复合型为378 例。② α- 珠蛋白生成障碍性贫血基因以缺 失型为主，基因型以--SEA/αα 为主，占64.59％，β- 珠蛋白生成障碍性贫血基因型以CD41-42/N 为主，占38.97％。 ③在αβ 复合型珠蛋白生成障碍性贫血携带者中共检出46 种基因型，以--SEA/αα 和CD41-42/N 双重杂合子最常见， 占19.84％。④ 478 个高风险家庭中已孕197 个，最终确诊重型珠蛋白生成障碍性贫血胎儿42 例，均知情选择终止妊娠。 结论　广州地区是珠蛋白生成障碍性贫血的高发区，对婚前和孕前人群开展珠蛋白生成障碍性贫血筛查, 可更有效预防 重型珠蛋白生成障碍性贫血患儿出生。
Abstract:
Objective　To investigate the distribution of the thalassemia genotype among pre-marital and pre-pregnancy population in Guangzhou, and explore prevention and control effect of thalassemia. Methods　The couples who attended the free pre-marital and pre-pregnancy health examination of Guangzhou in 2018 were recruited. Cases with screening positive in thalassemia were both given hemoglobin electrophoresis analysis and gene test. The couples who had fetus with risk of severe thalassemia would be suggested to take prenatal diagnosis and be followed up. Results　① 10 209 cases were diagnosed as thalassemia carriers, including 7 026 α-thalassemia, 2 085 β-thalassemia and 378 αβ-thalassemia. ② --SEA/ αα was the most common genotype of α-thalassemia (64.59%) ,and CD41-42/N was the main genotype of β-thalassemia (38.97%). ③ A total of 46 genotypes were detected in the carriers of αβ-thalassemia, --SEA/αα combined with CD41- 42/N is the main gene mutation type. ④ 478 couples who had fetus with risk of severe thalassemia were found, and 197 of them had been pregnant.42 fetuses were diagnosed definitely as severe thalassemia，and all of them terminated pregnancy after prenatal diagnosis. Conclusion　Guangzhou is a high incidence area of thalassemia. Screening and diagnosis of thalassemia in pre-marital and pre-pregnancy population can effectively control the birth of children with severe thalassemia.

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备注/Memo

备注/Memo:
收稿日期：2020-03-06 修回日期：2020-03-10基金项目：广州市医药卫生科技项目（20161A011119）; 广东省科技计划项目（2017A030223003，2017ZC0388）；韶关市卫生计生科研 　　　　　计划项目（Y18024）。 作者简介：屈艳霞（1982-），女，硕士研究生，主管技师，研究方向：出生缺陷防控,E-mail:quyanxia 2008@163.com。
更新日期/Last Update: 2020-07-20