Summary
A new glucose-6-phosphate dehydrogenase (G6PD) variant associated with chronic nonspherocytic hemolytic anemia was reported. The patient, a 6-year-old Japanese male, was noticed to have hemolytic anemia soon after birth, and a diagnosis of G6PD deficiency was made at the age of 2. He had episodes of hemolytic crisis several times after upper respiratory infection. G6PD activity of the patient was 5.5% of normal. The enzymatic characteristics were examined when he was 5 years old, and his G6PD showed faster-than-normal electrophoretic mobility, low Km G6P, high Km NADP, low Ki NADPH, normal utilization of substrate analogues, heat instability, and a normal pH optimum curve. From these results, this was considered to be a new variant and was designated G6PD Nagano. Infection-induced hemolysis and chronic hemolytic anemia seem to be due to markedly impaired enzyme activity and thermal instability.
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References
Beutler E (1982) G-6-PD: Historical perspective and current status. In: Weatherall DJ, Fiorelli G, Gorini S (eds) Advances in red blood cell biology. New York, Raven Press, pp 297–308
Beutler E, Yoshida A (1973) Human glucose-6-phosphate dehydrogenase variants: A supplementary tabulation. Ann Hum Genet 37: 151–155
Beutler E, Grooms AM, Morgan SK, Trinidad F (1972) Chronic severe hemolytic anemia due to G-6-PD Charleston: A new deficient variant. J Pediatr 80:1005–1009
Beutler E, Mathai CK, Smith JE (1968) Biochemical variants of glucose-6-phosphate dehydrogenase giving rise to congenital nonspherocytic hemolytic disease. Blood 31:131–150
Dacie JV, Lewis SM (1975) Practical haematology, 5th ed. Churchill Livingstone, Edinburgh
Honig GR, Habacon E, Vida LN, Matsumoto F, Beutler E (1979) Three new variants of glucose-6-phosphate dehydrogenase associated with chronic nonspherocytic hemolytic anemia: G-6-PD Lincoln Park, G-6-PD Arlington Heights, and G-6-PD West Town. Am J Hematol 6:353–360
Howell EB, Nelson AJ, Jones OW (1972) A new G-6-PD variant associated with chronic non-spherocytic haemolytic anaemia in a Negro family. J Med Genet 9:160–164
Junien C, Kaplan J-C, Meienhofer MC, Maigret P, Sender A (1974) G6PD Baudelocque: A new unstable variant characterized in cultured fibroblasts. Enzyme 18:48–59
Mathai CK, Ohno S, Beutler E (1966) Sex-linkage of the glucose-6-phosphate dehydrogenase gene in Equidae. Nature 210:115–117
Thigpen JT, Steinberg MH, Beutler E, Gillespie GT Jr, Dreiling BJ, Morrison FS (1974) Glucose-6-phosphate dehydrogenase Jackson. A new variant associated with hemolytic anemia. Acta Haematol 51:310–314
WHO Scientific Group (1967) Standardization of procedures for the study of glucose-6-phosphate dehydrogenase. WHO Tech Rep Ser 366:1–53
Yoshida A (1973) Hemolytic anemia and G6PD deficiency: Physiologic activity, not in vitro activity, of enzyme is related to the severity of genetic disease. Science 179:532–537
Yoshida A, Beutler E (1978) Human glucose-6-phosphate dehydrogenase variants: a supplementary tabulation. Ann Hum Genet 41: 347–355
Yoshida A, Beutler E, Motulsky AG (1971) Human glucose-6-phosphate dehydrogenase variants. Bull WHO 45:243–253
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Takahashi, K., Fujii, H., Takegawa, S. et al. A new glucose-6-phosphate dehydrogenase variant (G6PD Nagano) associated with congenital hemolytic anemia. Hum Genet 62, 368–370 (1982). https://doi.org/10.1007/BF00304560
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DOI: https://doi.org/10.1007/BF00304560