Our April 2024 Quick Question, “What PLT production abnormality is an MYH9 gene mutation?” attracted 26 responses. Here’s the distribution:
- Thrombocytopenia with absent radii [TAR]: 4 [15%]
- Bernard-Soulier syndrome [BSS]: 2 [7%]
- Immune thrombocytopenia [ITP]: 1 [4%]
- Wiskott-Aldrich syndrome: 1 [4%]
- May-Hegglin disorder: 18 [70%]
The production abnormalities are associated with mild to severe bleeding. TAR is a mutation in the RNA-binding protein 8A [RBM8A], a protein involved in nuclear mRNA splicing. BSS results from one of several mutations affecting the von Willebrand factor binding platelet receptor GP Ib/V/IX. In ITP, autoantibodies bind circulating platelets and bone marrow megakaryocytes, affecting platelet production and shortening platelet lifespan. Wiskott-Aldrich syndrome is an X-linked mutation associated with immunodeficiency and thrombocytopenia.
Click here for a comprehensive open-access review of platelet production abnormalities associated with mutations in the MYH9 gene: Althaus K, Greinacher A. MYH9-related platelet disorders. Semin Thromb Hemost. 2009;35:189–203. doi: 10.1055/s-0029-1220327.
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