[α-地中海贫血基因分析临床遗传咨询专家共识]。

Hui Xi, Qin Liu, Jing Liu, Wenxian Yu, Xuedong Wu, Qingxian Chang
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引用次数: 0

摘要

α-地中海贫血是一种由α-球蛋白基因变异引起的小细胞低色素性贫血,是中国南方最常见的单基因疾病之一。基于血液学表型的人群筛查模式在地中海贫血高发地区取得了很好的效果。然而,随着基因检测费用的不断降低和地中海贫血基因携带者筛查项目的实施,更多的α-球蛋白基因变异被发现,这也给临床遗传咨询带来了巨大的挑战。本共识从α-球蛋白基因分析的角度,探讨了检测前后遗传咨询的内容,旨在为临床医生提供规范化的指导。
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[Expert consensus on clinical genetic counseling of α-thalassemia gene analysis].

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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来源期刊
中华医学遗传学杂志
中华医学遗传学杂志 Medicine-Medicine (all)
CiteScore
0.50
自引率
0.00%
发文量
9521
期刊介绍: Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.
期刊最新文献
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