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Class I glucose-6-phosphate dehydrogenase deficiency
Disease definition
A rare constitutional hemolytic anemia due to an enzyme disorder characterized by severe glucose-6-phosphate dehydrogenase deficiency (typically <10% residual enzyme activity) associated with chronic non-spherocytic hemolytic anemia of highly variable severity. Patients are at risk of developing neonatal jaundice (potentially leading to kernicterus), gallstones, and reticulocytosis and splenomegaly. They have an increased susceptibility to oxidizing agents provoking episodes of acute hemolysis. Favism, which describes the occurrence of an acute hemolytic reaction in response to the ingestion of fava beans, is more common in infants and young children.
ORPHA:466026
Classification level: Disorder- Synonym(s):
- Class I G6PD deficiency
- Severe hemolytic anemia due to G6PD deficiency
- Prevalence: <1 / 1 000 000
- Inheritance: X-linked recessive
- Age of onset: Neonatal
- ICD-10: D55.0
- OMIM: 300908
- UMLS: C5680005
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2022) Nederlands (2022) Português (2022) Français (2020)
Detailed information
Guidelines
- Clinical practice guidelines
- English (2014) - Clin Pharmacol Ther
- English (2017) - Haematologica
- Français (2017) - PNDS
- Anesthesia guidelines
- Czech (2015) - Orphananesthesia
- English (2015) - Orphananesthesia
- Español (2015) - Orphananesthesia
- Deutsch (2018) - Orphananesthesia
produced/endorsed by ERN(s) 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.