Inherited platelet function disorders are rare hemorrhagic diseases. The gold standard for their exploration is optical aggregometry; however, investigations by flow cytometry (FCM) are being increasingly used. In this review, the physiology of platelets is first recalled, setting the stage for the compartments of platelets that can be apprehended by specific and appropriate labeling. As this requires some pre‐analytical precautions and specific analytical settings, a second part focuses on these characteristic aspects, based on literature and on the authors' experience in the field, for qualitative or quantitative explorations. Membrane labeling with antibodies to CD42a or CD41, respectively, useful to assess the genetic‐related defects of Glanzmann thrombocytopenia and Bernard Soulier syndrome are then described. Platelet degranulation disorders are detailed in the next section, as they can be explored, upon platelet activation, by measuring the expression of surface P‐Selectin (CD62P) or CD63. Mepacrin uptake and release after activation is another test allowing to explore the function of dense granules. Finally, the flip‐flop anomaly related to Scott syndrome is depicted. Tables summarizing possible FCM assays, and characteristic histograms are provided as reference for flow laboratories interested in developing platelet exploration.

中文翻译：

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健康和遗传性出血性疾病中的血小板免疫表型，综述和实用提示。

遗传性血小板功能障碍是罕见的出血性疾病。他们探索的黄金标准是光学聚集法。然而，越来越多地使用流式细胞术 (FCM) 进行研究。在这篇综述中，首先回顾了血小板的生理学，为可以通过特定和适当的标记来理解的血小板区室奠定了基础。由于这需要一些分析前的预防措施和特定的分析设置，第二部分侧重于这些特征方面，基于文献和作者在该领域的经验，进行定性或定量探索。然后描述了分别带有 CD42a 或 CD41 抗体的膜标记，可用于评估 Glanzmann 血小板减少症和 Bernard Soulier 综合征的遗传相关缺陷。血小板脱颗粒障碍将在下一节详细介绍，因为它们可以在血小板激活时通过测量表面 P-选择素 (CD62P) 或 CD63 的表达来探索。Mepacrin 激活后的摄取和释放是另一个测试，可以探索致密颗粒的功能。最后，描述了与 Scott 综合征相关的触发器异常。提供了总结可能的 FCM 检测的表格和特征直方图，作为对开发血小板探索感兴趣的流动实验室的参考。描述了与 Scott 综合征相关的触发器异常。提供了总结可能的 FCM 检测的表格和特征直方图，作为对开发血小板探索感兴趣的流动实验室的参考。描述了与 Scott 综合征相关的触发器异常。提供了总结可能的 FCM 检测的表格和特征直方图，作为对开发血小板探索感兴趣的流动实验室的参考。