Hemolytic anemia due to glucophosphate isomerase deficiency
Hemolytic anemia due to glucophosphate isomerase deficiency
Definition
A 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.
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 — per MONDO