Erythrocyte glutathione S-transferase deficiency and hemolytic anemia.
A patient with unexplained erythrocyte glutathione-S-transferase (GST) deficiency has been detected among 513 unrelated persons with hemolytic anemia. An otherwise healthy adult male, the deficient individual had a mild hemolytic anemia with splenomegaly, indirect hyperbilirubinemia, and cholelithiasis. Because he was adopted and childless, the hereditary nature of the defect could not be established. The residual enzyme activity was only about 15% of mean normal. Depletion of glutathione (GSH) from the cells by 1-chloro-2,4-dinitrobenzene (CDNB), a substrate for GST, was somewhat decreased in the red cells from the patient, suggesting that a functional defect existed. The kinetic properties of the residual enzyme and the ratio of activity to antigenicity were normal. Modest decreases in leukocyte and platelet GST activities were documented. Although a cause-and-effect relationship between the GST deficiency and hemolysis may exist, this cannot be proven in the absence of affected family members.
Beutler
E
E
Research Institute of Scripps Clinic, Department of Basic and Clinical Research, La Jolla, CA 92037.
Dunning
D
D
Dabe
I B
IB
Forman
L
L
D000293:Adolescent; D000328:Adult; D000368:Aged; D000743:Anemia, Hemolytic / Q000097:blood / Q000201:enzymology* / Q000235:genetics; D000937:Antigen-Antibody Reactions; D002648:Child; D002675:Child, Preschool; D004795:Enzyme Stability; D004905:Erythrocyte Aging; D004912:Erythrocytes / Q000201:enzymology* / Q000502:physiology; D005982:Glutathione Transferase / Q000097:blood / Q000172:deficiency* / Q000276:immunology; D006801:Humans; D007106:Immune Sera / Q000494:pharmacology; D007223:Infant; D007231:Infant, Newborn; D007424:Intracellular Fluid / Q000201:enzymology; D007700:Kinetics; D008297:Male; D008875:Middle Aged
D007106:Immune Sera; D005982:Glutathione Transferase