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Start free with EleplanHemolytic anemia due to glutathione reductase deficiency
ORPHA:90030Disease
What it is
A rare hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies characterized by nearly complete absence of glutathione reductase activity in erythrocytes. Most of the patients present with favism and early-onset cataracts. Severe neonatal jaundice associated with unconjugated hyperbilirubinemia has also been reported.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- No data available
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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