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."
BEUTLER E, SIGALOVE WH, MUIR WA, MATSUMOTO F, WEST C. Glucosephosphate-Isomerase (GPI) Deficiency: GPI Elyria. Ann Intern Med. ;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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