This week’s case focused on an adult male with a platelet count in the 54×0⁹/L, identified during routine testing. The patient was asymptomatic, with no significant bleeding history, and haemoglobin and white cell counts were within normal limits.

A blood film was reviewed as part of the thrombocytopaenia workup and revealed characteristic findings consistent with a rare inherited condition.

Blood film findings:

• Large platelets
• Cytoplasmic inclusions in neutrophils, resembling Döhle bodies
• No red cell dysplasia

Diagnosis: May-Hegglin Anomaly

May-Hegglin Anomaly (MHA) is a rare autosomal dominant disorder associated with mutations in the MYH9 gene. It is part of the MYH9-related disease spectrum, which also includes conditions such as Epstein syndrome and Fechtner syndrome.

The key morphological features of MHA include:

• Mild to moderate thrombocytopaenia

• Giant platelets

• Neutrophil inclusions

• Typically minimal or no clinical bleeding

Educational Points:

• Not all thrombocytopaenia is acquired or clinically significant—morphology can reveal inherited conditions in asymptomatic individuals.

• A careful assessment of platelet size and granularity is essential when reviewing low platelet counts.

• Döhle body-like inclusions in neutrophils can serve as an important diagnostic clue in MYH9-related disorders.

Thank you to everyone who engaged with this week’s case. It serves as a reminder of the value of film review and the importance of recognising subtle inherited morphological patterns.