Inherited thrombocytopenia: advances in genes and genetic variants
10.13303/j.cjbt.issn.1004-549x.2025.09.026
- VernacularTitle:遗传性血小板减少症：基因与遗传变异研究进展
- Author:
Yuyin JIANG
1
;
Maoshan CHEN
1
;
Zhongjun LI
1
;
Li CHEN
1
Author Information
1. The Second Affiliated Hospital of the Army Medical University, Chongqing 400037, China
- Publication Type:Journal Article
- Keywords:
inherited thrombocytopenia;
platelet;
megakaryocyte;
next-generation sequencing
- From:
Chinese Journal of Blood Transfusion
2025;38(9):1286-1298
- CountryChina
- Language:Chinese
-
Abstract:
Inherited thrombocytopenia refers to a group of rare hereditary disorders characterized by a sustained reduction in platelet count. Different genetic mutations are associated with diverse clinical manifestations and prognoses, with certain mutations even predisposing to hematological malignancies. Next-generation sequencing (NGS) has enabled efficient identification of pathogenic variants in relevant genes, significantly advancing research progress, and numerous genes have been implicated in these disorders. This review expands the scope of relevant genes, refines the classification mechanism, and is not limited to a single population compared to previous research. It focuses on elucidating the genetic etiology and pathological mechanisms of inherited thrombocytopenia, while highlighting the critical role of identifying germline mutations in achieving precise diagnosis.
