Blood Res.  2022 Apr;57(S1):S11-S19. 10.5045/br.2022.2021223.

Diagnostic workup of inherited platelet disorders

• Kim B

• KMID: 2529301
• DOI: http://doi.org/10.5045/br.2022.2021223

Abstract

Inherited platelet disorders (IPDs) can cause mucocutaneous bleeding due to impaired primary hemostatic function of platelets, thrombocytopenia, or both. Recent advances in molecular technology can help identify many genes related to platelet biology, control the overall steps of megakaryopoiesis, and cause IPD. In this article, currently available laboratory tools for diagnosing IPDs with the characteristic laboratory features of each IPD are reviewed, and a general diagnostic approach for the evaluation of IPD patients is presented.

Keyword

Inherited platelet disorder; Platelet function tests; Thrombocytopenia; Bernard-Soulier syndrome; MYH9; Gray platelet syndrome; Glanzmann thrombasthenia