Nonrecessively transmitted nonspherocytic hereditary haemolytic anaemia associated with increased red cell glutathione.

摘要: Hereditary haemolytic anaemia not associated with spherocytosis, ovalocytosis, stomatocytosis or haemoglobinopathy was observed in three members of a kindred. There were no demonstrable abnormalities enzymes the Embden-Myerhof pathway, hexosemonophosphate shunt, variety non-glycolytic enzymatic activities assayed patient erythrocytes. In each case, red cell glutathione increased concentration to six standard deviations above our normal mean. Erythrocyte normally stable and all sulfhydryl reacting material shown by specific enzyme assays represent either reduced (97%) oxidized (3%) glutathione. No abnormality active transport cells. This syndrome unknown actiology transmitted autosomally dominant fashion or, alternatively, as possibly x-chromosome linked disorder. Existing data did permit differentiation these two possibilities.