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Hemolytic anemia due to glutathione reductase deficiency(CNSHA10)

MedGen UID:
1684855
•Concept ID:
C5231513
•
Disease or Syndrome
Synonyms: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 10; CNSHA10
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): GSR (8p12)
 
Monarch Initiative: MONDO:0019531
OMIM®: 618660
Orphanet: ORPHA90030

Definition

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

Clinical features

From HPO
Fava bean-induced hemolytic anemia
MedGen UID:
867286
•Concept ID:
C4021648
•
Disease or Syndrome
A kind of hemolytic anemia that is induced by the ingestion of fava beans.
See: Feature record | Search on this feature
Hyperbilirubinemia
MedGen UID:
86321
•Concept ID:
C0311468
•
Finding
An increased amount of bilirubin in the blood.
See: Feature record | Search on this feature
Reduced erythrocyte glutathione reductase activity
MedGen UID:
1053456
•Concept ID:
CN377356
•
Finding
Activity of glutathione reductase (EC 1.6.4.2) in erythrocytes below the lower limit of normal.
See: Feature record | Search on this feature
Cataract
MedGen UID:
39462
•Concept ID:
C0086543
•
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHemolytic anemia due to glutathione reductase deficiency

Professional guidelines

PubMed

Effect of riboflavin treatment on human red cell pyruvate kinase deficiency.
Blume KG, Arnold H, Hasslinger K, Löhr GW
Clin Chim Acta 1976 Sep 6;71(2):331-4. doi: 10.1016/0009-8981(76)90548-9. PMID: 963898

Recent clinical studies

Etiology

Gene-nutrient interactions in G6PD-deficient subjects--implications for cardiovascular disease susceptibility.
Muntoni S, Muntoni S
J Nutrigenet Nutrigenomics 2008;1(1-2):49-54. Epub 2007 Oct 16 doi: 10.1159/000109874. PMID: 19918114
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
Glutathione reductase activity and its relationship to pyridoxine phosphate activity in G6PD deficiency.
Anderson BB, Clements JE, Perry GM, Studds C, Vullo C, Salsini G
Eur J Haematol 1987 Jan;38(1):12-20. doi: 10.1111/j.1600-0609.1987.tb01417.x. PMID: 3582603
Red-cell GSH regeneration and glutathione reductase activity in G6PD variants in the Ferrara area.
Anderson BB, Carandina G, Lucci M, Perry GM, Vullo C
Br J Haematol 1987 Dec;67(4):459-66. doi: 10.1111/j.1365-2141.1987.tb06169.x. PMID: 3426963
Drug-induced hemolytic anemia.
Beutler E
Pharmacol Rev 1969 Mar;21(1):73-103. PMID: 4887725

Diagnosis

Erythrocytic glutathione reductase deficiency in a hospital population in the United States.
Frischer H
Am J Hematol 1977;2(4):327-34. doi: 10.1002/ajh.2830020402. PMID: 602923
Hemoglobin E, an oxidatively unstable mutation.
Frischer H, Bowman J
J Lab Clin Med 1975 Apr;85(4):531-9. PMID: 1120926
Drug-induced haemolytic anemia.
Petz LD, Garratty G
Clin Haematol 1975 Feb;4(1):181-97. PMID: 126834
Hereditary hemolytic disorders and enzymatic deficiencies of human erythrocytes.
Jaffé ER
Blood 1970 Jan;35(1):116-34. PMID: 4244328
A series of new screening procedures for pyruvate kinase deficiency, glucose-6-phosphate dehydrogenase deficiency, and glutathione reductase deficiency.
Beutler E
Blood 1966 Oct;28(4):553-62. PMID: 5923607

Therapy

Glutathione reductase activity and its relationship to pyridoxine phosphate activity in G6PD deficiency.
Anderson BB, Clements JE, Perry GM, Studds C, Vullo C, Salsini G
Eur J Haematol 1987 Jan;38(1):12-20. doi: 10.1111/j.1600-0609.1987.tb01417.x. PMID: 3582603
Drug-induced haemolytic anemia.
Petz LD, Garratty G
Clin Haematol 1975 Feb;4(1):181-97. PMID: 126834
Hemolytic anemia and pancytopenia in glutathione reductase deficiency: further experience with riboflavin.
Goebel KM, Goebel FD
Acta Haematol 1972;47(5):292-6. doi: 10.1159/000208538. PMID: 4625460
Drug-induced anemia.
Beutler E
Fed Proc 1972 Jan-Feb;31(1):141-6. PMID: 4333249
Drug-induced hemolytic anemia.
Beutler E
Pharmacol Rev 1969 Mar;21(1):73-103. PMID: 4887725

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
Cord blood red-cell enzymes and reduced glutathione in Indian neonates, normal and with pathologic jaundice.
Pati HP, Singh M, Paul VK, Gupta RK, Saraya AK
J Trop Med Hyg 1990 Aug;93(4):290-4. PMID: 2391727
Comparison between the chromate inhibition test and a cytochemical method for the determination of glucose-6-phosphate dehydrogenase deficiency in erythrocytes.
Jonges GN, Hagen H, Van Noorden CJ, Weening RS, Roos D
Clin Chim Acta 1989 May 15;181(2):135-41. doi: 10.1016/0009-8981(89)90180-0. PMID: 2472236

Clinical prediction guides

Congenital 6-phosphogluconate dehydrogenase (6PGD) deficiency associated with chronic hemolytic anemia in a Spanish family.
Vives Corrons JL, Colomer D, Pujades A, Rovira A, Aymerich M, Merino A, Aguilar i Bascompte JL
Am J Hematol 1996 Dec;53(4):221-7. doi: 10.1002/(SICI)1096-8652(199612)53:4<221::AID-AJH2>3.0.CO;2-#. PMID: 8948658
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
Antioxidant enzymatic systems and oxidative stress in erythrocytes with G6PD deficiency: effect of deferoxamine.
Vanella A, Campisi A, Castorina C, Sorrenti V, Attaguile G, Samperi P, Azzia N, Di Giacomo C, Schilirò G
Pharmacol Res 1991 Jul;24(1):25-31. doi: 10.1016/1043-6618(91)90061-2. PMID: 1946141
Pyrimidine 5'nucleotidase and several other red cell enzyme activities in beta-thalassaemia trait.
Vives Corrons JL, Pujades MA, Aguilar i Bascompte JL, Jou JM, Rozman C, Ester A
Br J Haematol 1984 Mar;56(3):483-94. doi: 10.1111/j.1365-2141.1984.tb03978.x. PMID: 6320862
Hemoglobin E, an oxidatively unstable mutation.
Frischer H, Bowman J
J Lab Clin Med 1975 Apr;85(4):531-9. PMID: 1120926

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