Abstract
A Japanese family with G-6-PD deficiency associated with increased erythrocyte ATPase activities and reduced blood ATP levels, is described and discussed. To our knowledge, this may be the first report on G-6-PD deficiency associated with increased erythrocyte ATPase activity and decreased blood ATP level.
The propositus was a 6-month-old infant, who visited our out-patient clinic because of slight anemia, having the past history of severe neonatal jaundice. Laboratory examinations revealed RBC 3.78×106/μl, Hb 11.7g/dl, Ht 33.2%, reticulocyte count 33‰, platelet count 330×103/μl, and WBC 12,200/μl with normal differentials. Erythrocyte G-6-PD activity was moderately decreased in association with the abnormal results of glutathione stability test and Heinz body formation test, increased erythrocyte ATPase activity, and reduced blood ATP level.
This patient, as well as affected three other members of the family, showed no hemolytic crisis nor jaundice even during his respiratory tract infections or on medications of various drugs.
Further studies are needed to clarify the cause of increased ATPase activities and low blood ATP levels in these family mebers. The biochemical characterization of this variant is in progress.
