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Hemolytic anemia due to glucophosphate isomerase deficiency
rareA rare hemolytic anemia due to a defect of the glycolytic enzyme glucose 6-phosphate isomerase (GPI) characterized by chronic nonspherocytic hemolytic anemia and, rarely, neurological impairment.
- Identifiers
- MONDO:0013275 OMIM:613470Orphanet:712
- Causal genes
- GPI
- Part of
- Anemia due to erythrocyte enzyme disorderCongenital nonspherocytic hemolytic anemiaDisorder of glycolysis
- Also known as
- anemia, congenital, nonspherocytic hemolytic, 4, glucose phosphate isomerase deficient · CNSHA4 · glucosephosphate isomerase deficiency · hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
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