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Glucose phosphate isomerase deficiency with hereditary nonspherocytic hemolytic anemia

✍ Scribed by John J. Hutton; Robert R. Chilcote

Book ID
118538026
Publisher
Elsevier Science
Year
1974
Tongue
English
Weight
288 KB
Volume
85
Category
Article
ISSN
1097-6833

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## Communicated by Andreas Gal Molecular characteristics of red blood cell (RBC) glucose phosphate isomerase (GPI) deficiency are described in two Spanish patients with chronic nonspherocytic hemolytic anemia. One patient, with residual GPI activity in RBCs of around 7% (GPI-Catalonia), is homozyg

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A new case of glucose phosphate isomerase deficiency associated with cogenital nonspherocytic hemolytic anemia is described in a 12-year-old girl of Spanish origin. The parents exhibited erythrocyte glucose phosphate isomerase activity between 50 and 60% of normal. The enzyme of the propositus had n