May-Hegglin-anomaly

Rare autosomal dominant inherited disorder due to a MYH9 gene mutation. It is characterized by neutrophils with abnormal cytoplasmic inclusions, large platelets and variable thrombocytopenia.

It leads to the development of panmyelopathy with impaired formation of segmental granulocytes, thrombocytopenia, formation of basophilic inclusion bodies in monocytes, neutrophils and basophilic granulocytes.

1. Untanu RV et al (2021) May Hegglin Anomaly. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. PMID: 28722981.

2. Seri M et al (20o0) Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Hegglin/Fechtner Syndrome Consortium. Nat Genet. 26(1):103-105