中国实用妇科与产科杂志

中国实用妇科与产科杂志 ›› 2022, Vol. 38 ›› Issue (12): 1159-1163.DOI: 10.19538/j.fk2022120103

• 专题笔谈 • 上一篇    下一篇

妊娠期地中海贫血的管理与遗传咨询

  

  1. 南方医科大学南方医院妇产科，广东 广州 510515
  • 出版日期:2022-12-02 发布日期:2022-12-02
  • 通讯作者: 王志坚
  • 基金资助:
    国家自然科学基金面上项目（81971415）

Management and genetic counseling of thalassemia during pregnancy. 

  1. Department of Obstetrics and Gynecology,Nanfang Hospital，Southern Medical University，Guangzhou 510515，China
  • Online:2022-12-02 Published:2022-12-02

摘要： 地中海贫血是最常见的单基因遗传病之一，是中国人口出生缺陷的重大公共卫生问题。妊娠期地中海贫血基因携带者及地中海贫血患者的管理与遗传咨询是控制重型地中海贫血患儿出生、减轻家庭和社会负担的重要环节。此外，地中海贫血基因携带孕妇的贫血管理及相关并发症的干预也至关重要。

关键词: 地中海贫血, 产前筛查, 产前诊断, 妊娠期管理, 遗传咨询

Abstract: Thalassemia is one of the most common single-gene genetic diseases in clinical practice and a major public health problem of birth defects in China.Management and genetic counseling of thalassemia during pregnancy is the most critical way for controlling the birth of children with severe thalassemia and reducing the burden on families and society.The management of anemia and intervention of related complications are also essential for thalassemia carriers during pregnancy.

Key words: thalassemia, prenatal screening, prenatal diagnosis, management during pregnancy, genetic counseling

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