Article
A proactive large platelet-driven screening strategy for the early recognition of MYH9-related disease: a Chinese prospective cohort study.
Research and practice in thrombosis and haemostasis - 1 Jul 2026
Chen Wenlan, Arif Abdul Rehman, Ding Yajie, Wang Limin, Cai Li, Arif Muneeba, Xue Mei, Mei Heng, Wang Yadan
Abstract excerpt
Background: Accurate diagnosis of MYH9-related disease (MYH9-RD) is frequently impeded by a reactive process. Clinical suspicion typically arises only following immune thrombocytopenia (ITP) treatment failure, family history identification, or emergence of extra-hematological manifestations. However, de novo variants or delayed syndromic onset may obscure these indicators, leading to misdiagnosis as ITP and...
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