hemolytic anemia due to glucophosphate isomerase deficiency
Findings
No curated finding names hemolytic anemia due to glucophosphate isomerase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0013275), read 2026-09-29. CC BY 4.0.
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased glucosephosphate isomerase levelHPOHP:0003568
- Frequent (30% to 79% of cases)
- HepatomegalyHPOHP:0002240
- Frequent (30% to 79% of cases)
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- Frequent (30% to 79% of cases)
- JaundiceHPOHP:0000952
- Frequent (30% to 79% of cases)
- Nonspherocytic hemolytic anemiaHPOHP:0001930
- Frequent (30% to 79% of cases)
- ReticulocytosisHPOHP:0001923
- Frequent (30% to 79% of cases)
- SplenomegalyHPOHP:0001744
- Frequent (30% to 79% of cases)
- Unconjugated hyperbilirubinemiaHPOHP:0008282
- Frequent (30% to 79% of cases)
- CholecystitisHPOHP:0001082
- Occasional (5% to 29% of cases)
- Hydrops fetalisHPOHP:0001789
- Occasional (5% to 29% of cases)
- Intellectual disabilityHPOHP:0001249
- Occasional (5% to 29% of cases)
- Pigment gallstonesHPOHP:0011981
- Occasional (5% to 29% of cases)
Show the remaining 2
- PoikilocytosisHPOHP:0004447
- Occasional (5% to 29% of cases)
- Impaired neutrophil bactericidal activityHPOHP:0011993
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GPIHGNC:4458
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: hemolytic anemia due to glucophosphate isomerase deficiency
- Also called
- anemia, congenital, nonspherocytic hemolytic, 4, glucose phosphate isomerase deficientCNSHA4glucosephosphate isomerase deficiencyhemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency