Case 2: MYH9-related Disorder

This is an example of MYH9-related disorder

Historically, these disorders had distinct eponyms (e.g. May-Hegglin), but with much phenotypic and genotypic overlap, these are now classified as MYH9-related disorder.

MYH9-related disorders are associated with large platelets (and thrombocytopenia)

This one I found is large, but some platelets can even be larger than an RBC! 🩸

Besides the large platelets, the classic finding is Dohle-like bodies, which are light blue inclusions often found at the periphery of the cytoplasm in neutrophils

This inclusion is composed of aggregates of NMHCIIA, the myosin heavy chain ⛓ protein product of MYH9.

The inclusions in MYH9-related disorders are not true Dohle bodies. Let’s compare Dohle vs Dohle-like inclusions #PathDoodles

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