Abstract: 　Objective　To investigate the clinical features of two patients diagnosed with pyruvate kinase deficiency caused by PKLR gene mutation. Method　Clinical data of the patients was retrospectively analyzed. Genetic test was performed using the whole exome sequencing (WES), and Sanger sequencing was used to verify the results. Related literatures on clinical and genetic features of pyruvate kinase deficiency were reviewed. Results　Two female patients with three years and eight months old respectively, suffered from a sallow complexion for three years were recruited in this study. The clinical manifestations of the children were moderate anemia, yellow sclera and low hemoglobin levels (all below 60g/L) as indicated by routine blood tests. Compound heterozygous mutations of c.106G>T inherited from her mother and c.817C>T inherited from her father in PKLR gene were found by the whole exome sequence, and two heterozygous mutations of c.1279G>T inherited from her mother and IVS6-1G>T inherited from her father IVS6-1G>Tin PKLR gene were found in patient 2. In silico analysis showed that mutation may affect protein function, and IVS6-1G>T mutation may affect splicing. Conclusion　The mutations of PKLR gene is the pathogenesis of two PKD families. Genetic test could help diagnosis in patients with PKD.

Key words: 　pyruvate kinase deficiency;　PKLR gene;　clinical phenotype;　mutation