Research progress in Thrombocytopenia 2
10.13303/j.cjbt.issn.1004-549x.2025.11.020
- VernacularTitle:遗传性血小板减少症2型研究进展
- Author:
Lanyue HU
1
;
Xiaoting YIN
1
;
Zhongjun LI
1
;
Li CHEN
1
Author Information
1. Department of Blood Transfusion, The Second Affiliated Hospital of the Army Medical University, Chongqing 400037, China
- Publication Type:Journal Article
- Keywords:
thrombocytopenia 2;
ANKRD26;
myeloid malignancy predisposition
- From:
Chinese Journal of Blood Transfusion
2025;38(11):1611-1619
- CountryChina
- Language:Chinese
-
Abstract:
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.
