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Bleeding Disorders

April 2024 QQ Summary: MYH9 Mutation

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. […]
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How to Measure Plasma Efanesoctocog Alfa [Altuviiio]

For those like me (Geo) who are just learning of it, efanesoctocog alfa (Altuviiio™), US FDA-approved in February of 2023 is Sanofi/Sodi’s extended half-life synthetic FVIII concentrate. Here is an edited description of Altuviiio’s structure and PK from the package insert. Altuviiio (efanesoctocog alfa, ehtl, recombinant AHF, Fc–VWF-XTEN fusion protein) replaces missing FVIII needed for […]
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