ArticleResearch and practice in thrombosis and haemostasis2026
A proactive large platelet-driven screening strategy for the early recognition of MYH9-related disease: a Chinese prospective cohort study.
Article in Research and practice in thrombosis and haemostasis, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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, Objectives: This study prospectively evaluated a multiparameter platelet size trigger as an accessible screening entry point for early MYH9-RD recognition, independent of a family history, treatment refractoriness, or syndromic features. Methods: Consecutive patients with persistent, unexplained thrombocytopenia were screened using predefined thresholds for mean platelet volume (≥ 14.55 fL), platelet-large cell ratio (≥ 58%), or manual identification of giant platelets when automated values were unobtainable. Individuals meeting any criterion underwent targeted high-throughput sequencing for inherited thrombocytopenia genes (including Results: Among 42 screened patients, 7 (16.7%) were diagnosed with MYH9-RD, including 2 with novel Conclusion: This streamlined 3-step strategy provides a practical, potentially resource-conscious pathway for early MYH9-RD diagnosis, 1 better aligned with current clinical practice in China than the existing diagnostic paradigms.
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