MYH9-related disorder

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MYH9-related disorder

#00065974

Author: Ke Xu, MD; Rebecca Ling
Category: Hemostasis and coagulation > Bleeding disorders > Platelet abnormalities > Thrombocytopenia > Congenital thrombocytopenia > MYH9-related disorder
Published Date: 11/20/2025

The blood film of a patient with thrombocytopenia and moderate hearing loss shows large platelets and frequent Döhle bodies (arrows) in the neutrophils. Genetic testing confirmed MYH9 (c.5833G>T, p.Glu1945Ter) variant. MYH9-related disorder is an inherited giant platelet disorder caused by mutations in the MYH9 gene. Patients may develop hearing loss, nephropathy and cataract. The differential diagnosis includes Bernard-Soulier syndrome and immune thrombocytopenic purpura.

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