The May-Hegglin anomaly: a rare cause of a common complaint

Abstract

May-Hegglin anomaly is the presentation of a qualitative platelet disorder characterised by large platelets, thrombocytopenia and granulocyte inclusions as a result of mutations in the MYH9 gene. Though often overlooked given its rarity, it should be considered in patients who present with epistaxis, bruising, menorrhagia and easy bleeding as it can be mistaken for other diagnoses resulting in unnecessary treatments and tests. Our case study reports one presentation of this anomaly and can help broaden awareness of the presentation of this type of patient.