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Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies

MedGen UID:
1842364
•Concept ID:
C5681714
•
Disease or Syndrome
Orphanet: ORPHA98370

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies

Recent clinical studies

Etiology

Hemolytic anemias due to erythrocyte enzyme deficiencies.
Jacobasch G, Rapoport SM
Mol Aspects Med 1996 Apr;17(2):143-70. doi: 10.1016/0098-2997(96)88345-2. PMID: 8813716

Diagnosis

Rare hereditary red blood cell enzymopathies associated with hemolytic anemia - pathophysiology, clinical aspects, and laboratory diagnosis.
Koralkova P, van Solinge WW, van Wijk R
Int J Lab Hematol 2014 Jun;36(3):388-97. doi: 10.1111/ijlh.12223. PMID: 24750686

Therapy

Abnormalities of the hexose monophosphate shunt.
Beutler E
Semin Hematol 1971 Oct;8(4):311-47. PMID: 5150955

Prognosis

Hemolytic anemias due to erythrocyte enzyme deficiencies.
Jacobasch G, Rapoport SM
Mol Aspects Med 1996 Apr;17(2):143-70. doi: 10.1016/0098-2997(96)88345-2. PMID: 8813716

Clinical prediction guides

Hemolytic anemias due to erythrocyte enzyme deficiencies.
Jacobasch G, Rapoport SM
Mol Aspects Med 1996 Apr;17(2):143-70. doi: 10.1016/0098-2997(96)88345-2. PMID: 8813716

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