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Hemolytic anemia due to glutathione reductase deficiency
Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes.
ORPHA:90030Classification level: Disorder
It has been described in three children (one male and two females) born to consanguineous parents.
Both parents had intermediate levels of GSR activity. One child presented with favism and two with cataracts.
This disease should be distinguished from glutathione reductase deficiency secondary to dietary riboflavin deficiency and from the acute pharmacologic phenocopy induced by carmustine (BCNU).
Transmission is autosomal recessive.
Management and treatment
GSR activity is not restored by riboflavin in vivo or by FAD in vitro.