Children's Hospital Los Angeles, University of Southern California Keck School of Medicine, Los Angeles, CA 90027, USA.
Blood. 2013 Mar 14;121(11):1944-50. doi: 10.1182/blood-2012-08-378935. Epub 2013 Jan 14.
Hemophilia is a bleeding disorder that afflicts about 1 in 5000 males. Treatment relies upon replacement of the deficient factor, and response to treatment both in clinical research and practice is based upon subjective parameters such as pain and joint mobility. Existing laboratory assays quantify the amount of factor in plasma, which is useful diagnostically and prognostically. However, these assays are limited in their ability to fully evaluate the patient's clot-forming capability. Newer assays, known as global assays, provide a far more detailed view of thrombin generation and clot formation and have been studied in hemophilia for about 10 years. They have the potential to offer a more objective measure of both the hemophilic phenotype as well as the response to treatment. In particular, in patients who develop inhibitors to deficient clotting factors and in whom bypassing agents are required for hemostasis, these assays offer the opportunity to determine the laboratory response to these interventions where traditional coagulation assays cannot. In this article we review the existing literature and discuss several controversial issues surrounding the assays. Last, a vision of future clinical uses of these assays is briefly described.
血友病是一种出血性疾病，影响大约每 5000 名男性中的 1 人。治疗依赖于缺乏因子的替代，在临床研究和实践中，对治疗的反应都基于主观参数，如疼痛和关节活动度。现有的实验室检测方法可定量检测血浆中的因子含量，这在诊断和预后方面都很有用。然而，这些检测方法在全面评估患者的凝血能力方面存在局限性。新型检测方法，称为整体检测方法，可更详细地了解凝血酶生成和血栓形成，并已在血友病中研究了大约 10 年。它们有可能提供对血友病表型以及对治疗反应的更客观的衡量。特别是在出现抑制物的缺乏凝血因子的患者中，以及需要旁路剂来止血的患者中，这些检测方法提供了机会来确定传统凝血检测方法无法确定的这些干预措施的实验室反应。本文回顾了现有文献，并讨论了围绕这些检测方法的几个有争议的问题。最后，简要描述了这些检测方法未来在临床中的应用前景。
