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hemolytic anemia due to glutathione reductase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hemolytic anemia due to glutathione reductase deficiency

MONDO:0019531

Overview

Haemolytic anemia due to glutathione reductase (GSR) deficiency is characterized by nearly complete absence of GSR activity in erythrocytes.

GeneticsAutosomal recessive · GSR (chr 8)

OnsetADULT

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Cataract and Reduced erythrocyte glutathione reductase activity. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	1	Cataract
Lab test results

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GSR encodes glutathione-disulfide reductase (522 aa). Catalyzes the reduction of glutathione disulfide (GSSG) to reduced glutathione (GSH). Constitutes the major mechanism to maintain a high GSH:GSSG ratio in the cytosol Highest expression in Cells Cultured fibroblasts (68.0 TPM) and Cells EBV-transformed lymphocytes (64.8 TPM).

Hemolytic anemia due to glutathione reductase deficiency is associated with mutations in the GSR gene on chromosome 8.

The GSR protein participates in GSR gene:p-NFE2L2, NFE2L2-dependent GSR gene expression, and GSSeSG is reduced to GSSeH and GSH by GSR pathways.

GSR is classified as a druggable target (Druggable Genome, Enzyme, and External Side Of Plasma Membrane categories) with score 2.4.

Diagnosis

Genetic testing for GSR is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hemolytic anemia due to glutathione reductase deficiency.

3 publications have been identified in PubMed for hemolytic anemia due to glutathione reductase deficiency. Research spans Other (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Lucbert A (2026). [PMID: 41883493](https://pubmed.ncbi.nlm.nih.gov/41883493/). *Pract Lab Med*. [Case Report / Case Series]
Roy S (2026). [PMID: 41984322](https://pubmed.ncbi.nlm.nih.gov/41984322/). *Indian Pediatr*. [Other]
Valenzuela-Villatoro M (2025). [PMID: 40333285](https://pubmed.ncbi.nlm.nih.gov/40333285/). *G3 (Bethesda, Md.)*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:10 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618660

Orphanet

European rare disease database

Orphanet:90030

GARD

Genetic and Rare Diseases Info Center

GARD:16784

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hemolytic anemia due to glutathione reductase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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