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Hemolytic anemia due to glutathione reductase deficiency

Disease definition

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

ORPHA:90030

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: No data available
  • ICD-10: D55.1
  • ICD-11: 3A10.0Y
  • OMIM: 618660
  • UMLS: C5231513
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

It has been described in three children (one male and two females) born to consanguineous parents.

Clinical description

Both parents had intermediate levels of GSR activity. One child presented with favism and two with cataracts.

Differential diagnosis

This disease should be distinguished from glutathione reductase deficiency secondary to dietary riboflavin deficiency and from the acute pharmacologic phenocopy induced by carmustine (BCNU).

Genetic counseling

Transmission is autosomal recessive.

Management and treatment

GSR activity is not restored by riboflavin in vivo or by FAD in vitro.

- Last update: December 2007

  A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)

Detailed information

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.