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The May-Hegglin anomaly: a rare cause of a common complaint
- Source :
- BMJ Case Rep
- Publication Year :
- 2023
-
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.
- Subjects :
- 0301 basic medicine
Blood Platelets
medicine.medical_specialty
Myh9 gene
Hearing Loss, Sensorineural
Case Report
030105 genetics & heredity
03 medical and health sciences
0302 clinical medicine
medicine
Humans
In patient
business.industry
Platelet Count
Large Platelets
General Medicine
medicine.disease
Dermatology
Thrombocytopenia
Easy Bleeding
Mutation
May–Hegglin anomaly
Female
Presentation (obstetrics)
business
030217 neurology & neurosurgery
Qualitative platelet disorder
Subjects
Details
- ISSN :
- 1757790X
- Volume :
- 14
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- BMJ case reports
- Accession number :
- edsair.doi.dedup.....481e8457b75290c535155c1fa1cf99d7