Hereditary high-adenosine triphosphate syndrome: Study of a new variant |
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Authors: | Jayant P Bapat Arvind J Baxi |
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Institution: | 1. Blood Group Reference Centre, Seth G. S. Medical College, 400 012, Parel, Bombay, India
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Abstract: | A new variant of hereditary hemolytic anemia in a family due to high adenosine triphosphate (ATP) is reported. The increase in ATP levels varied from 83 to 105% in the family members. Low 2,3-diphosphoglycerate levels and low 2,3-diphosphoglyceromutase activity were observed in three family members, with normal glucose-6-phosphate dehydrogenase and pyruvate kinase activity. |
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