Four new electrophoretically slow‐moving glucose 6‐phosphate dehydrogenase variants associated with congenital nonspherocytic hemolytic anemia found in Japan: Gd(‐) Kurume, Gd(‐) Fukushima, Gd(‐) Yamaguchi and Gd(‐) Wakayama

Abstract

Four new glucose 6‐phosphate dehydrogenase (G6PD) variants which had electrophoretically slow‐moving characteristics associated with congenital nonspherocytic hemolytic anemia were discovered in Japan. Gd(‐) Kurume was found in a 17‐year‐old male whose red cells contained only 0.8% of normal enzyme activity. Gd(‐) Kurume had a normal Km G6P, normal Km NADP, low Ki NADPH, normal utilization of 2‐deoxy‐G6P and deamino‐NADP, very low heat stability and a biphasic pH curve. The hemolytic anemia was mild. Gd(‐) Fukushima was characterized from a 33‐year‐old male and had 2.8% of normal enzyme activity, normal Km G6P, normal Km NADP, low Ki NADPH, normal utilization of 2‐dcoxy‐G6P, low utilization of deamino‐NADP, low heat stability and a normal pH curve. The hemolytic anemia was mild. Gd(‐) Yamaguchi was characterized from an 8‐year‐old boy and had 3.5% of normal enzyme.

Clinical and biochemical studies on mutant red cell enzymes mainly associated with hemolytic anemia

“…In addition, the variants found in Chinese and Philippines are different from those found in Japanese except for G6PD B(-) Chinese (Nakashima et aI., 1977). Nineteen out of the 21 variants were characterized in our laboratory Nakashima et al, 1977;Miwa et al, 1977a;Miwa et al, 1978aMiwa et al, , 1978bNakatsuji and Miwa, 1979). In addition, the frequency in Japan could not increase probably because the positive selective pressure of the endemic of malaria was lacking.…”