[Clinical implications of 2024 edition of WHO classification for G6PD genetic variation].

Q4 Medicine
Weiying Jiang
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引用次数: 0

Abstract

The 1985 version of WHO G6PD variation classification is no longer suitable for the development of modern medicine, and it has been revised by the WHO G6PD Technical Advisory Group. According to the genetic variation classification of G6PD by WHO in 2024, G6PD deficiency is divided into four categories: Class A: enzyme activity < 20% with chronic hemolytic anemia; Class B: enzyme activity < 45% in association with acute hemolysis caused by inducement; Class C: enzyme activity > 60%, no hemolysis; Class U: for those with incomplete clinical phenotypic information, and will be classified again with new clinical evidence obtained. The clinical implications of the new classification include: (1) To guide the prevention and treatment of G6PD deficiency; (2) To better understand the pathological and non-pathological status of G6PD deficiency, which lays a foundation for re-determining the birth defect rate in China; (3) To guide the safe use of anti-malarial drugs and related oxidizing drugs in G6PD deficient patients; (4) To promote the hierarchical health management of G6PD deficient individuals throughout their life cycle; (5) To guide the pathogenicity rating of G6PD gene variation; (6) To unify the diagnostic criteria for global G6PD deficiency, promote the homogenization, comparability and data sharing of global relevant data, and lay the foundation for the application of artificial intelligence.

[2024版WHO G6PD遗传变异分类的临床意义]。
1985年版WHO G6PD变异分类已不适合现代医学的发展,WHO G6PD技术咨询组对其进行了修订。根据WHO 2024年G6PD基因变异分类,将G6PD缺乏症分为四类:A类:酶活性< 20%伴慢性溶血性贫血;B类:酶活性< 45%,与诱导引起的急性溶血有关;C类:酶活性> 60%,无溶血;U类:临床表型信息不完整者,在获得新的临床证据后重新分类。新分类的临床意义包括:(1)指导G6PD缺乏症的防治;(2)更好地了解G6PD缺乏症的病理和非病理状态,为重新确定中国出生缺乏率奠定基础;(3)指导G6PD缺乏患者抗疟药物及相关氧化性药物的安全使用;(4)促进G6PD缺陷个体全生命周期的分层健康管理;(5)指导G6PD基因变异的致病性分级;(6)统一全球G6PD缺乏症的诊断标准,促进全球相关数据的同质化、可比性和数据共享,为人工智能的应用奠定基础。
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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.
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