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• W2025458173 abstract "The clinical course, hematologic data, and red cell glutathione and glucose-6-phosphate dehydrogenase studies are reported for 6 patients who had a congenital nonspherocytic hemolytic anemia. On the basis of these findings the patients could be divided into three groups. Group 1 consists of three Caucasian boys belonging to two families. The anemia and reticulocytosis were mild, red cell morphology was normal, red cell glutathione was unstable in the presence of acetylphenylhydrazine, and glucose-6-phosphate dehydrogenase activity was absent. Glutathione and enzyme studies on the family members indicated that these abnormalities were genetically determined and that their transmission was sex-linked. A Caucasian boy and a Negro girl comprise Group 2. The anemia and reticulocytosis were quite marked, and the erythrocytes were macrocytic, slightly hypochromic, and occasionally target shaped and finely stippled. Nucleated red cells were usually present in the peripheral blood. Glutathione and enzyme studies were normal. Group 3 consists of a 15-year-old Caucasian girl who was first described by Lange and Akeroyd.11 She had a severe hemolytic anemia between 21/2 and 10 years of age, and inclusion bodies were observed in the red cells. Frequent epileptic seizures and blackcolored urine were also noted. Whole blood glutathione values and the glutathione stability test were abnormal. Erythrocyte glucose-6-phosphate dehydrogenase activity was increased. The father's peripheral blood count was normal, but his glutathione and enzyme values were similar to those observed in the patient. These studies emphasize the importance of biochemical techniques in shedding light on the mechanism of hemolysis and the pattern of inheritance of congenital hemolytic disorders. Even though our knowledge of the etiologic role of many of these metabolic aberrations is incomplete, newer paths for exploration are becoming apparent. When these pathways are finally mapped, therapeutic application of this knowledge may become possible." @default.
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• W2025458173 date "1959-09-01" @default.
• W2025458173 modified "2023-10-18" @default.
• W2025458173 title "Metabolic abnormalities of erythrocytes from patients with congenital nonspherocytic hemolytic anemia" @default.
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• W2025458173 doi "https://doi.org/10.1016/s0022-3476(59)80228-6" @default.
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