Expert consensus on clinical genetic counseling of α-thalassemia gene analysis
10.3760/cma.j.cn511374-20240131-00079
- VernacularTitle:α-地中海贫血基因检测临床遗传咨询专家共识
- Author:
Hui XI
;
Qin LIN
;
Jing LIU
;
Wenxian YU
- Keywords:
α-thalassemia;
Genetic screening;
Genetic testing;
Genetic counseling
- From:
Chinese Journal of Medical Genetics
2024;41(6):669-676
- CountryChina
- Language:Chinese
-
Abstract:
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.
