Summary
A new G6PD variant, designated Gd (+) Laguna, was found in a 9-year-old Brazillian boy of Portuguese ancestry suffering from an iron-refractory anemia. The red cell enzyme activity of the subject was 64%. The mutant enzyme showed slower electrophoretic mobility, increased affinity for glucose-6-phosphate, decreased affinity for NADP+, elevated utilization of substrate analogues, decreased inhibition of NADPH, normal heat stability and a biphasic pH curve. The occurrence of the variant in two non-anemic relatives of the propositus indicates that the association between this G6PD type and anemia may be coincidental.
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References
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Publication no. 3171 BCR from the Research Institute of Scripps Clinic
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Weimer, T.A., Schüler, L., Beutler, E. et al. Gd (+) Laguna, a new rare glucose-6-phosphate dehydrogenase variant from Brazil. Hum Genet 65, 402–404 (1984). https://doi.org/10.1007/BF00291568
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DOI: https://doi.org/10.1007/BF00291568