α-地中海贫血基因检测临床遗传咨询专家共识

Expert consensus on clinical genetic counseling of α-thalassemia gene analysis

α-地中海贫血是由α珠蛋白基因变异所导致的小细胞低色素性贫血,是我国南方地区最常见的单基因遗传病之一。基于血液学表型的群体携带者筛查模式在α地贫高发地区已取得了较大的成效。随着基因检测费用的不断下降,以及地贫基因携带者筛查的广泛开展,越来越多的α地贫基因变异类型被发现,为临床遗传咨询带来了较大的挑战。本文从α地贫基因检测临床遗传咨询的角度,对α-地贫基因检测前后咨询需要重点关注的内容进行了探讨,并达成了本专家共识,旨在为临床医师提供规范化的遗传咨询指导意见。

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.