诊断学理论与实践

诊断学理论与实践 ›› 2026, Vol. 25 ›› Issue (01): 9-14.doi: 10.16150/j.1671-2870.2026.01.002

• 专家论坛 • 上一篇    下一篇

遗传性血小板减少症诊断现状及挑战

王刚1(), 王玲玉1,2,*   

  1. 1.山西医科大学第二医院（第二临床医学院）血液科，血液病分子诊疗山西省重点实验室，山西医科大学出凝血疾病及恶性血液病研究中心，太原 030001
    2.山西省中西医结合医院检验科，太原 030013
  • 收稿日期:2025-12-01 修回日期:2025-12-24 接受日期:2026-01-08 出版日期:2026-02-25 发布日期:2026-02-25
  • 通讯作者: 王刚 E-mail：g.wang@sxmu.edu.cn
  • 作者简介:*：并列第一作者
  • 基金资助:
    国家自然科学基金(81700182);国家自然科学基金(81970172)

Current status and challenges of diagnosis of hereditary thrombocytopenia

WANG Gang1(), WANG Lingyu1,2,*   

  1. 1. Department of Hematology, The Second Hospital of Shanxi Medical University (Second Clinical Medical College), Shanxi Provincial Key Laboratory of Molecular Diagnosis and Treatment of Hematological Diseases, Research Center for Hemostatic Disorders and Hematologic Malignancies, Shanxi Medical University, Shanxi Taiyuan 030001, China
    2. Department of Laboratory Medicine, Shanxi Provincial Integrated Traditional Chinese and Western Medicine Hospital, Shanxi Taiyuan 030013, China
  • Received:2025-12-01 Revised:2025-12-24 Accepted:2026-01-08 Published:2026-02-25 Online:2026-02-25

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摘要：

在临床工作中，面对血小板减少或形态功能异常的患者，需要进行遗传性血小板减少症（hereditary thrombocytopenia, HT）与获得性（继发）血小板减少症的鉴别，这对患者管理以及治疗方案的选择至关重要。HT患者的症状具有异质性，根据患者基因突变的遗传模式，包括常染色体显性遗传、常染色体隐性遗传和X连锁遗传，可对其进行分类。HT的确诊以及分类管理仍极具挑战性。基因检测虽然是确诊HT的金标准，但是如果没有预先怀疑患者为HT的依据，通过疾病基因检测发现诊断性、致病性突变的概率要低得多。临床工作中可以根据阳性家族史、典型的临床表现、实验室检查等缩小怀疑范围，从而快速为患者提供明确诊断。了解HT患者的突变基因及类型，分析其突变来源，有助于揭示基因突变的致病机制，进一步预测突变的影响，并针对患者制定治疗、管理策略及开展遗传咨询。

关键词: 遗传性血小板减少症, 常染色体显性遗传, 基因检测

Abstract:

In clinical practice, for patients with thrombocytopenia or morphological and functional abnormalities, it is necessary to differentiate between hereditary thrombocytopenia (HT) and acquired (secondary) thrombocytopenia, which is crucial for patient management and the selection of treatment strategies. The symptoms of HT patients are heterogeneous. Based on the inheritance patterns of their gene mutations, including autosomal dominant inheritance, autosomal recessive inheritance, and X-linked inheritance, patients can be classified accordingly. The diagnosis and classification management of HT remain highly challenging. Although genetic testing is the gold standard for confirming HT, without prior evidence of the patient suspected of having HT, the probability of discovering diagnostic and pathogenic mutations through disease gene testing is much lower. In clinical practice, it is possible to narrow down the suspicion based on positive family history, typical clinical manifestations, laboratory tests, etc., thereby providing a rapid and definitive diagnosis for patients. Understanding the mutated genes and types in HT patients, and analyzing the sources of mutations, can help reveal the pathogenic mechanisms of gene mutations. This further predicts the impact of mutations and facilitates the development of patient-specific treatment and management strategies, as well as genetic counseling for patients.

Key words: Hereditary thrombocytopenia, Autosomal dominant inheritance, Genetic testing

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