Clin Pediatr Hematol Oncol.  2013 Apr;20(1):8-12.

RBC Enzyme Analysis

• Song J

Abstract

Among ~20 RBC enzyme deficiencies causing hereditary hemolytic anemia (HRA), deficiencies involving three RBC enzymes such as glucose-6-phosphatase, pyruvate kinase and pyrimidine 5'-nucleodiase were known to be relatively common. The methods that have been used for RBC enzyme analysis are based on the kinetic spectrophotometry. This method, however, usually requires multiple step reactions and manual manipulations which are labor-intensive and time-consuming, and carry a greater risk of error due to their complexity. To solve this problem, we had successfully developed the multiplex enzyme analysis for galactose using ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). We are now trying to adopt this method to other RBC enzymes associated with HRA. The devised method will allow simple, rapid, sensitive and reproducible quantification of RBC enzymes and should be helpful for the confirmatory diagnosis of HRA caused by RBC enzyme deficiencies.

Keyword

Hereditary hemolytic anemia; RBC enzyme deficiency; Mass spectrometry

MeSH Terms

Anemia, Hemolytic, Congenital
Galactose
Glucose-6-Phosphatase
Mass Spectrometry
Pyrimidines
Pyruvate Kinase
Spectrophotometry
Galactose
Glucose-6-Phosphatase
Pyrimidines
Pyruvate Kinase