Homozygous Glutathione-peroxidase Deficiency of Erythrocytes and Leukocytes

A homozygous erythrocyte glutathione-peroxidase deficiency was reported of a 9-month-old girl, who showed clinical pictures of non-spherocytic hemolytic anemia since the age of 4 months. Clinical and biochemical findings were: 1) persistent reticulocytosis (6.5-13.5%), 2) an increased susceptibility to Heinz-body formation of erythrocytes, 3) a slight increase of methemoglobin in erythrocytes, 4) a marked decrease in glutathione peroxidase activity in both erythrocytes and cultured leukocytes, 5) a marked decrease in activation of the hexose monophosphate shunt of erythrocytes in the presence of hydrogen peroxide, 6) a slight decrease in linoleic, linolenic and arachidonic acids of phosphatidyl-choline of erythrocytes, and 7) the normal activity of erythrocytes for glucose-6-phosphate dehydrogenase, pyruvate kinase, triose phosphate isomerase, 2, 3-diphosphoglyceromutase, ATP-ase, catalase and lactate production.