May-Hegglin anomaly

Rare autosomal dominant platelet disorder associated with giant platelets, thrombocytopenia, and Dohle bodies like cytoplasm inclusions in granulocytes.

Caused by mutations in the MYH9 gene on chromosome 22q.

MYH9 encodes the non-muscle myosin heavy chain-IIA (NMMHC-IIA) protein, which is expressed in platelets, leukocytes, kidney, cochlea, and the lens.

NMMHC-IIA plays a role in cell motility, cytokinesis, polarity and cell architecture.

Abnormal NMMHC-IIA forms inclusions in granulocyte cytoplasm as it accumulates and aggregates.

inherited disorders that share findings with this anomaly include: Sebastian, Fechtner, and Epstein syndromes.

The above syndromes differentiated from the others by presence or absence of leukocyte inclusion bodies and Alport manifestations that may be present such as nephritis, sensorineural hearing loss, and cataracts.

Along with Sebastian, Fechtner and Epstein syndromes all due to mutations in the MYH9 gene.

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