Mechanisms of congenital erythrocyte enzyme deficiencies associated with hemolytic anemia
Boivin, P.; Kahn, A.
Annales de Biologie Clinique 34(1): 53-62
1976
ISSN/ISBN: 0003-3898 PMID: 135522 Document Number: 100300
The search for a mechanism for red cell enzyme deficiency associated with congenital hemolytic anemia, requires one to determine the kinetic and thermodynamic properties of the enzyme reaction and study the physico-chemical and immunological characteristics of the protein which supports enzyme activity. The technique of iso-electric focalisation and the use of specific anti-enzyme antibodies, is the reason for recent progress in the understanding of the mechanism of these deficiencies. Examples of application of these techniques are given in relation to glucose-6-dehydrogenase, pyruvate kinase, glucose phosphate isomerase, phosphofructokinase and phosphoglycerate kinase of deficiencies showing the multiplicity of the molecular mechanisms.