Demonstration of metabolic anomaly of congenital nonspherocytic hemolytic anemia and beneficial effect of vitamin B12 upon it.

Abstract

1) A case of congenital nonspherocytic hemolytic anemia was reported. A metabolic abnormality in the erythrocytes from the patient was demonstrated, consisting of a low content of reduced glutathione, an abnormality in the reduced glutathione stability test, and a low activity of glucose-6-phosphate dehydrogenase. These abnormalities were also found in the erythrocytes from the mother to a milder degree, while there was no abnormalities in the erythrocytes from the father. This is the first case in Japan, of this type of hemolytic anemia in which an enzymatic anomaly of the erythrocytes was demonstrated. 2) The treatment with large dose of vitamin B12 brought about a relief from jaundice, when an increase of reduced glutathione content in the erythrocytes and an improvement of reduced glutathione instability were observed, although the activity of glucose-6-phosphate dehydrogenase in the erythrocytes remained in a constantly low level. 3) The in-vitro effect of vitamin B12 on gulcose-6-phosphate dehydrogenase was investigated. The relationship between vitamin B12 and glutathione metabolism was discussed. 4) Genetic mode of the disease was discussed.