Hereditary Hemolytic Disease Secondary to Glucose-6-Phosphate Dehydrogenase Deficiency: Report of Three Cases with Special Emphasis on ATP Metabolism

• Published in: Blood Vol. 23; no. 4; pp. 427 - 444
• Main Authors: Mohler, Daniel N, Crockett, Charles L
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.04.1964
• Subjects: Adenosine Triphosphate; Adolescent; Anemia; Anemia, Hemolytic; Chromium Isotopes; Erythrocytes; Genetics, Medical; Glucosephosphate Dehydrogenase Deficiency; Glucosephosphates; Glutathione; Humans; Methemoglobin; NAD; NADP; Old Medline; Pyruvates; CHROMIUM ISOTOPES; NAD; ERYTHROCYTES; GLUTATHIONE; ANEMIA, HEMOLYTIC; METHEMOGLOBIN; ADOLESCENCE; NADP; PYRUVATES; GLUCOSEPHOSPHATE DEHY- DROGENASE DEFICIENCY; GENETICS, HUMAN; ADENOSINE TRIPHOSPHATE
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood.V23.4.427.427

Abstract 1. Three cases of hereditary hemolytic disease secondary to G-6-PD deficiency are described. Two of the cases were first cousins of Scotch-Irish-English descent and the mode of inheritance was believed to be sex-linked. The third case was of Turkish origin; no family studies were availale. 2. The mothers, who were heterozygous for G-6-PD deficiency, showed only minimal expression of the defect, which was manifested by a slightly decreased red cell survival in both mothers and an abnormal methemoglobin reduction test in one of them. 3. All three cases showed a more pronounced fall in erythrocyte ATP after incubation with phenylhydrazine than that observed in primaquine-sensitive Negroes whose red cells were less deficient in G-6-PD. 4. It is suggested that the inability of the G-6-PD-deficient erythrocyte to maintain adequate levels of ATP may be an important factor in the pathogenesis of the hemolytic process.