Pyruvate Kinase Deficiency: An Underdiagnosed Cause of Severe Hemolytic Anemia in Iranian Population: Insights From Whole Exome Sequencing of Four Families and Screening of a Population‐Specific Database

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Analysis identifies PKD prevalence in Iranian patients with severe hemolytic anemia, suggesting genetic screening is crucial.

Severe hemolytic anemia was diagnosed in seven Iranian patients due to pyruvate kinase deficiency.
Genetic analysis revealed three distinct PKLR variants in four consanguineous families.
Population screening showed 21 individuals carrying pathogenic variants among 1200 evaluated in the Iranome database.
Highlighting genetic diversity underscores the need for better awareness and diagnostic practices for PKD in Iran.

Rafat et al. (2025) studied this question.

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