摘要
地中海贫血(简称地贫)是指由珠蛋白基因缺陷(突变、缺失)导致的一种或多种珠蛋白肽链合成障碍引起的遗传性慢性溶血性贫血,是临床上最常见的单基因遗传病之一。地贫基因携带者妊娠期发生与贫血相关的产科合并症与并发症的风险增加;若夫妻双方均为同型地贫基因携带者,生育重型地贫患儿的风险增加。因此在参考国内外最新指南和文献的基础上制定本共识,旨在为规范育龄夫妇地贫基因携带者的筛查、遗传咨询、产前诊断和妊娠期管理提供指导。
Thalassaemia refers to hereditary chronic hemolytic anemia caused by one or more globin peptide chain synthesis disorders due to globin gene defects(mutations,deletions),and is one of the most common single-gene diseases in clinical practice.Thalassaemia gene carriers have an increased risk of anemia-related obstetric complications during pregnancy;if the couples are both carriers of the same type of thalassaemia gene,the risk of having children with severe thalassaemia increases.In order to provide this population with much better prenatal screening,diagnosis,genetic counseling and management during pregnancy,this consensus is developed based on related guidelines and the latest clinical evidence.
作者
无
王子莲
钟梅
无;Wang Zilian;Zhong Mei(Society of Perinatal Medicine,Chinese Medical Association;Obstetric Subgroup,Society of Obstetrics and Gynecology,Chinese Medical Association;Department of Obstetrics and Gynecology,First Affiliated Hospital of Sun Yat-sen University,Guangzhou 510080;Department of Obstetrics and Gynecology,Nanfang Hospital of Southern Medical University)
出处
《中华围产医学杂志》
CAS
CSCD
北大核心
2020年第9期577-584,共8页
Chinese Journal of Perinatal Medicine
关键词
地中海贫血
妊娠并发症
血液
疾病管理
Thalassemia
Pregnancy complications,hematologic
Disease management
