摘要
遗传性血小板减少症2型(Thrombocytopenia 2,THC2)是由ANKRD26胚系突变导致的常染色体显性遗传性血液病,以持续性血小板数量减少及髓系肿瘤易感为主要特征。该病因缺乏特异性临床表现且临床认知不足,易被漏诊误诊导致不恰当干预。我们通过系统阐述THC2的临床表现、分子病理机制及精准诊疗策略,为临床诊疗及致病机理深度探索提供理论依据和实践指引。
Thrombocytopenia 2(THC2)is an autosomal dominant hematologic disorder caused by germline mutations in the ANKRD26 gene,characterized primarily by persistent thrombocytopenia and a predisposition to myeloid neoplasms.Owing to nonspecific clinical presentation and limited disease awareness,THC2 is frequently underdiagnosed or misdiagnosed,potentially leading to inappropriate interventions.This article systematically outlines the clinical manifestations,pathogenesis,and strategies for the precise diagnosis and treatment of THC2,aiming to provide a theoretical basis and practical guidance for its clinical management and for the in-depth investigation of its pathogenesis.
作者
胡蓝月
尹小婷
李忠俊
陈立
HU Lanyue;YIN Xiaoting;LI Zhongjun;CHEN Li(Department of Blood Transfusion,The Second Affiliated Hospital of the Army Medical University,Chongqing 400037,China)
出处
《中国输血杂志》
2025年第11期1611-1619,共9页
Chinese Journal of Blood Transfusion
基金
重庆市科卫联合医学科研项目面上项目(2025MSXM098)。
