Moustafa Abdou/LinkedIn
Aug 21, 2026, 12:42
Moustafa Abdou: Diagnosis and Management of Pyruvate Kinase Deficiency
Moustafa Abdou, Author and Founder of AskHematologist.com, shared a post on LinkedIn:
”Not every chronic haemolytic anaemia is immune-mediated.
Pyruvate kinase deficiency (PKD) is a rare inherited red-cell enzyme disorder that can remain unrecognised for years, with presentations ranging from severe neonatal jaundice to compensated haemolytic anaemia in adulthood.
In my updated clinical review, I discuss:
- Clinical presentation and complications
- Diagnostic and laboratory approach
- PKLR genetics and pathophysiology
- Current treatment strategies
- The emerging role of mitapivat, a pyruvate kinase activator
Key clinical message: Consider PK deficiency in patients with unexplained chronic haemolysis, particularly when immune and other common causes have been excluded.”
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