Diagnosis

• Variable anaemia.

• Reticulocytes 44.

• Serum haptoglobin 5.

• Definitive diagnosis requires assay of PK level. Complications

Aplastic crisis may be seen in viral infection (e.g. parvovirus B19). Treatment

Dependent on severity. General supportive measures include daily folic acid (5mg/d). Transfusion may be required. Splenectomy may be of value if high transfusion requirements. In aplastic crisis (e.g. viral infection) support measures should be used.

Zanella, A. & Bianchi, P. (2000) Red cell pyruvate kinase deficiency: from genetics to clinical manifestations. Baillieres Best Pract Res Clin Haematol, 13, 57-81.

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