Hereditary hemolytic anemia due to glucose-6-phosphate dehydrogenase Torrance: a new variant.

Abstract A new variant of glucose-6-phosphate dehydrogenase (G-6-PD) associated with nonspherocytic hemolytic anemia in a Caucasian kindred of Mohawk Indian-Irish ancestry is reported. This variant (G-6-PD Torrance) resembles G-6-PD Chicago but has the unique property of losing most of its activity at pH 8 on dialysis even in the presence of 10 μM TPN. However, it can be reactivated in vitro by 200 μM TPN in the presence of appropriate hydrogen and Mg ++ ion concentrations.

[1]  E. Beutler Drug-induced hemolytic anemia. , 1969, Pharmacological reviews.

[2]  E. Beutler,et al.  Biochemical variants of glucose-6-phosphate dehydrogenase giving rise to congenital nonspherocytic hemolytic disease. , 1968, Blood.

[3]  H. Lehmann,et al.  Haemoglobin Sydney: β67 (EII) Valine→ Alanine : an Emerging Pattern of Unstable Haemoglobins , 1967, Nature.

[4]  A. Yoshida,et al.  A single amino Acid substitution (asparagine to aspartic Acid) between normal (b+) and the common negro variant (a+) of human glucose-6-phosphate dehydrogenase. , 1967, Proceedings of the National Academy of Sciences of the United States of America.

[5]  S. Ohno,et al.  Sex-linkage of the Glucose-6-phosphate Dehydrogenase Gene in Equidae , 1966, Nature.

[6]  L. Luzzatto,et al.  Different properties of glucose 6-phosphate dehydrogenase from human erythrocytes with normal and abnormal enzyme levels. , 1965, Biochemical and biophysical research communications.

[7]  T. Shows,et al.  Erythrocyte Glucose-6-Phosphate Dehydrogenase in Caucasians: New Inherited Variant , 1964, Science.

[8]  H. Kirkman,et al.  "CHICAGO I" VARIANT OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE IN CONGENITAL HEMOLYTIC DISEASE. , 1964, The Journal of laboratory and clinical medicine.

[9]  W. Valentine,et al.  STUDIES ON CHROMATED ERYTHROCYTES. EFFECT OF SODIUM CHROMATE ON ERYTHROCYTE GLUTATHIONE REDUCTASE. , 1964, The Journal of clinical investigation.

[10]  A. Chung,et al.  Human erythrocyte glucose 6-phosphate dehydrogenase. II. Enzyme-coenzyme interrelationship. , 1963, The Journal of biological chemistry.

[11]  E. Beutler,et al.  Improved method for the determination of blood glutathione. , 1963, The Journal of laboratory and clinical medicine.

[12]  P. Marks,et al.  A study of the mechanism by which triphosphopyridine nucleotide affects human erythrocyte glucose-6-phosphate dehydrogenase. , 1962, Biochemical and biophysical research communications.

[13]  H. Kirkman,et al.  Glucose 6-phosphate dehydrogenase from human erythrocytes. II. Subactive states of the enzyme from normal persons. , 1962, The Journal of biological chemistry.

[14]  H. Kirkman Glucose 6-phosphate dehydrogenase from human erythrocytes. I. Further purification and characterization. , 1962, The Journal of biological chemistry.

[15]  W. Valentine,et al.  Pyruvate kinase (PK) deficiency hereditary nonspherocytic hemolytic anemia. , 1962, Blood.

[16]  E. Beutler The glutathione instability of drug-sensitive red cells; a new method for the in vitro detection of drug sensitivity. , 1957, The Journal of laboratory and clinical medicine.

[17]  R. J. Dern,et al.  The hemolytic effect of primaquine. VI. An in vitro test for sensitivity of erythrocytes to primaquine. , 1955, The Journal of laboratory and clinical medicine.