August 16, 2025Open Access

Pyruvate Kinase Deficiency: Markedly Decreased Reticulocyte PK Activity and Limited Specificity of the PK:HK Ratio

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Discussion

Analysis reveals 73% specificity of PK:HK ratio in anemia diagnosis, highlighting challenges in identifying PK deficiency.

The PK:HK ratio showed 73% specificity while PK activity had 95% specificity in diagnosing anemia.
In a study of 41 PK deficiency patients and 62 with other anemias, PK activity was significantly reduced by 23-fold in reticulocytes.
Decreased PK activity was noted in both reticulocytes and erythrocytes across anemia types, but was more pronounced in PK deficiency cases.
Transfusions typically skew PK activity results, suggesting a need for specific reticulocyte PK activity measurement post-transfusion.

Koleva et al. (2025) studied this question.

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