地中海贫血
遗传咨询
医学
协商一致会议
遗传学
计算生物学
生物信息学
生物
内科学
作者
Hui Xi,Qin Liu,Бо Лю,Wenxian Yu,Xuedong Wu,Qingxian Chang
出处
期刊:PubMed
日期:2024-06-10
卷期号:41 (6): 669-676
标识
DOI:10.3760/cma.j.cn511374-20240131-00079
摘要
α-thalassemia is a type of microcytic hypochromic anemia caused by variants of alpha-globin gene, and is one of the most common monogenic disorders in southern China. The population screening model based on hematologic phenotype has achieved great results in areas with high incidence of thalassemia. However, with the continuous decline of the cost of genetic testing and implementation of screening programs for thalassemia gene carriers, more variants in the alpha-globin gene have been discovered, which also brings great challenges to clinical genetic counseling. From the perspective of alpha-globin genetic analysis, this consensus has discussed the contents of pre- and post-test genetic counseling, with an aim to provide standardized guidance for clinicians.
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