ERNEST BEUTLER, M.D.; W. H. SIGALOVE, M.D.; W. ANGUS MUIR, M.D.; F. MATSUMOTO, B.S.; C. WEST
The erythrocytes of a 13-year-old girl with chronic nonspherocytic hemolytic anemia were found to be deficient in glucosephosphate isomerase (GPI). The ratio of erythrocyte glucose-6-phosphate to fructose-6-phosphate the equilibrium catalyzed by GPI was twice that of normal. Splenectomy produced clinical improvement and lengthening of the [51Cr]erythrocyte survival. Since her parents were related, the child was evidently homozygous for a mutant allele. The mutant enzyme, which is designated "Elyria," was found to be electrophoretically slow and thermolabile. An incidental finding was that the patient's mother also carried a gene that coded for an electrophoretically abnormal GPI with normal activity. This electrophoretic variant has been designated "GPIOhio."
ERNEST BEUTLER, W. H. SIGALOVE, W. ANGUS MUIR, F. MATSUMOTO, C. WEST. Glucosephosphate-Isomerase (GPI) Deficiency: GPI Elyria. Ann Intern Med. 1974;80:730–732. doi: 10.7326/0003-4819-80-6-730
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Published: Ann Intern Med. 1974;80(6):730-732.
Hematology/Oncology, Red Cell Disorders.
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