RBC Enzyme Analysis / 임상소아혈액종양

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.

RBC Enzyme Analysis / 임상소아혈액종양

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.

Red Blood Cell Enzymopathies Causing Hereditary Hemolytic Anemia / 임상소아혈액종양

The RBC enzyme deficiencies causing hereditary hemolytic anemia (HHA) can be divided into three groups: those participating in the glycolytic (E-M) pathway; those involved with the maintenance of a high ratio of reduced to oxidized glutathione; one enzyme in the nucleotide degradation and salvage pathway. Although RBC enzyme deficiencies causing HHA are rare, 3 of the 15 kinds of important and relatively frequently reported enzyme deficiencies such as pyruvate kinase, glucose-6-phosphate-dehydrogenase and pyrimidine-5'-nucleotidase deficiencies are briefly reviewed. The molecular genetics, clinical symptoms, diagnosis and therapeutic approaches of each enzyme deficiencies are summerized. As these enzyme deficiencies are reported throughout the world as well as in Korea with the identification of the mutations, considering a broad spectrum of etiologies for the diagnosis of HHA seems to be warranted.

Red Blood Cell Enzymopathies Causing Hereditary Hemolytic Anemia / 임상소아혈액종양

The RBC enzyme deficiencies causing hereditary hemolytic anemia (HHA) can be divided into three groups: those participating in the glycolytic (E-M) pathway; those involved with the maintenance of a high ratio of reduced to oxidized glutathione; one enzyme in the nucleotide degradation and salvage pathway. Although RBC enzyme deficiencies causing HHA are rare, 3 of the 15 kinds of important and relatively frequently reported enzyme deficiencies such as pyruvate kinase, glucose-6-phosphate-dehydrogenase and pyrimidine-5'-nucleotidase deficiencies are briefly reviewed. The molecular genetics, clinical symptoms, diagnosis and therapeutic approaches of each enzyme deficiencies are summerized. As these enzyme deficiencies are reported throughout the world as well as in Korea with the identification of the mutations, considering a broad spectrum of etiologies for the diagnosis of HHA seems to be warranted.