A family of new G 6 PD variant associated with chronic nonspherocytic hemolytic anemia was reported.
Proband is a 17-year-old male who was admitted to Kurume University Hospital in September 1977 because of continuous jaundice during over one year.
On physical examination, the patient had jaundice and slight splenomegaly. Laboratory studies revealed RBC 368×104/cmm, Hb 14.0 g/dl, Ht 41%, reticulocyte count 6.5%, serum bilirubin 3.0 mg/dl (indirect bilirubin 1.9 mg/dl) and 51Cr-labeled red cell half-life 9 days. Abnormal hemoglobin was not detected.
G 6 PD activity was very low (0.8% of normal mean) with reduced GSH in red cells and abnormal GSH stability test (-82%). Other characteristics of G 6 PD in this case were disclosed electrophoretically slow-moving, normal Km G 6 P, normal Km NADP, low Ki NADPH, normal utilization of 2-deoxy-G 6 P and deamino-NADP, marked heat instability and a biphasic PH curve.
Hence, this case can be classified as Class 1 because of severe enzyme deficiency associated with chronic hemolytic anemia. The seven hitherto reported variants are similar to this case in electrophoretically slow-moving with normal Km G 6 P. However, these variants are clearly different from this case with the other biochemical characteristics of G 6 PD.
Consequently, the G 6 PD in this case may be regarded as a hitherto unreported variant and this variant was designated as G 6 PD Kurume.
Family study showed that the eldest brother and the youngest brother had the same abnormality as that of the proband. One of his sister, the mother, the maternal grand mother and one of his aunts were found to be heterozygous for G 6 PD deficient gene.
