Prevalence of pyruvate kinase deficiency among the Chinese: determination by the quantitative assay

The prevalence of pyruvate kinase (PK) deficiency among the Chinese population has not been established. Fung et al. (Arch Dis Child 44:373-376, 1969) and Wu et al. (Am J Hematol 20:139-144, 1985) indicate 3.4% and 2.1% PK deficiency prevalence rates, respectively, the higher figure based on Beutler's screening test [3] without confirmatory testing. Neither figure is consistent with the occurrence of hemolytic anemia from this cause in the experiences of hematologists in Hong Kong. Using the standard quantitative assay, we measured PK activity in blood samples from 1,100 local Chinese people. The assay was automated on a centrifugal analyser, and the results were expressed in IU per gram of hemoglobin (IU/g Hb). Blood samples from 497 healthy male adults were measured, and PK activity was found to have a range of 15.2 +/- 5.2 (mean +/- 2 SD). A total of 100 cord blood samples were also measured, and the reference interval for this subgroup was 17.7 +/- 4.8. Additionally, samples from 503 anaemic patients were measured, and all were found to have values above the lower limit of the reference interval. The prevalence of PK deficiency among the Hong Kong Chinese population determined by this study was < 0.1%.