Clin Pediatr Hematol Oncol.  2012 Apr;19(1):1-6.

Red Blood Cell Enzymopathies Causing Hereditary Hemolytic Anemia

• Hah JO

Abstract

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.

Keyword

Hereditary hemolytic anemia; RBC enzyme deficiency; Pyruvate kinase deficiency; G6PD deficiency; Pyrimidine-5'-nucleotidase deficiency

MeSH Terms

Anemia, Hemolytic, Congenital
Erythrocytes
Glucosephosphate Dehydrogenase Deficiency
Korea
Molecular Biology
Pyruvate Kinase
Pyruvate Kinase