hemolytic anemia due to glutathione reductase deficiency
Findings
No curated finding names hemolytic anemia due to glutathione reductase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Haemolytic anemia due to glutathione reductase (GSR) deficiency is characterized by nearly complete absence of GSR activity in erythrocytes.
Definition from the Mondo Disease Ontology (MONDO:0019531), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 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.
- CataractHPOHP:0000518
- 3 of 3 reported patients · Adult onset
- Reduced erythrocyte glutathione reductase activityHPOHP:6000525
- 2 of 2 reported patients
- Fava bean-induced hemolytic anemiaHPOHP:0004814
- HyperbilirubinemiaHPOHP:0002904
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.
- GSRHGNC:4623
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018