The may-hegglin anomaly: A rare cause of a common complaint

Priyanka Reddy, Revathi Kollipara*, Jamile M. Shammo, Jerome Loew

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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.

Original languageEnglish (US)
Article numbere235432
JournalBMJ case reports
Volume14
Issue number3
DOIs
StatePublished - Mar 1 2021

Keywords

  • Genetics
  • Haematology (incl blood transfusion)

ASJC Scopus subject areas

  • General Medicine

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