A Glucose-6-Phosphate Dehydrogenase Variant, Gd(-) Santamaria Found in Costa Rica

Abstract

Red cell glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-chromosomal-linked abnormality often associated with hemoiytic anemia. The G6PD variants obtained from 2 unrelated males, one associated with enzyme deficiency and history of hemoiytic jaundice, and the other associated with enzyme deficiency but no hemoiytic problems, were examined. Although the 2 subjects have no known consanguinity, the two enzymes could not be distinguished from each other in respect to their electrophoretic mobilities and kinetic properties, both exhibiting slower than normal anodal electrophoretic mobility, lower K_m for G6P and NADP and higher rate of utilization of 2-deoxy-G6P and deamino-NADP. An unique double-banded pattern was observed in starch gel electrophoresis at pH 7.0 and pH 8.6. The variant is distinguished from all reported Gd variants, and it is designated Gd (-) Santamaria.

Independent origin of single and double mutations in the human glucose 6-phosphate dehydrogenase gene

“…This is contrary to the double-band pattern originally reported in the subject with G6PD Santamaria (Saenz et al, 1984). We also found a biphasic pH curve with optimum activity at 7 and 9.5 as opposed to a truncated curve.…”

“…However, recent in vitro studies have demonstrated that in the most common form of G6PD the two mutations act synergistically to produce its characteristic deficient phenotype (Town et al, 1992). G6PD Santamaria was originally described on the basis of biochemical characterization of the enzyme in two unrelated white subjects from Costa Rica (Saenz et al, 1984). Subsequently, it has been shown that this variant is the consequence of an A-tT mutation at nucleotide 542 as well as the (Beutler et al, 1991).…”

Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Deficiency among Jordanians

“…According to the WHO classification of G6PD variants, G6PD Santamaria is grouped under class II variants, which have enzyme activity of less than 10%. This variant was originally described in 2 unrelated subjects from Costa Rica [32]. It has also been described in the Canary Islands and in Italy [3].…”

Glucose-6-phosphate Dehydrogenase Deficiency in Portugal: Biochemical and Mutational Profiles, Heterogeneity, and Haplotype Association

“…Among these, the Betica mutation was described in Spain (15,16) and the Santa Maria mutation in Costa Rica (17,18) and in Algeria (13). In Portugal the Betica mutation was found in Setúbal and Lisbon and Santa Maria mutation in Lisbon, Setúbal and Faro, and absent in the northern part of the country.…”