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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:
1864348
•Concept ID:
C5937288
•
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

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
The detection of heterozygous G6PD deficiency; similarity between glutathione deficiency and G6PD deficiency.
Prins HK
Humangenetik 1970;9(3):254-5. doi: 10.1007/BF00279239. PMID: 5451690
Glucose-6-phosphate dehydrogenase deficiency in Italy. A study of the distribution and severity of the enzymatic defect.
Salvidio E, Pannacciulli I, Tizianello A, Gaetani G, Paravidino G
Acta Haematol 1969;41(6):331-40. doi: 10.1159/000208870. PMID: 4982575
Drug-induced hemolytic anemia.
Beutler E
Pharmacol Rev 1969 Mar;21(1):73-103. PMID: 4887725
Hemolysis due to inherited erythrocyte enzyme deficiencies.
Carson PE
Ann N Y Acad Sci 1968 Jul 31;151(2):765-76. doi: 10.1111/j.1749-6632.1968.tb48260.x. PMID: 4391842

Diagnosis

Drug-induced haemolytic anemia.
Petz LD, Garratty G
Clin Haematol 1975 Feb;4(1):181-97. PMID: 126834
Influence of glucose-6-phosphate dehydrogenase deficiency on the glutathione reductase test for ariboflavinosis.
Thurnham DI
Ann Trop Med Parasitol 1972 Dec;66(4):505-8. doi: 10.1080/00034983.1972.11686853. PMID: 4656452
Hereditary hemolytic disorders and enzymatic deficiencies of human erythrocytes.
Jaffé ER
Blood 1970 Jan;35(1):116-34. PMID: 4244328
Glucose-6-phosphate dehydrogenase deficiency in females, diagnosed by partial inhibition of glutathione reductase activity in the erythrocytes after incubation with chromate.
Zurcher C, Kuijlman FF, Sass F't, Zurcher T, Loos JA, Prins HK
Clin Chim Acta 1969 Jul;25(1):139-46. doi: 10.1016/0009-8981(69)90239-3. PMID: 5797116
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

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
Hemolysis due to inherited erythrocyte enzyme deficiencies.
Carson PE
Ann N Y Acad Sci 1968 Jul 31;151(2):765-76. doi: 10.1111/j.1749-6632.1968.tb48260.x. PMID: 4391842

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
Hemoglobin E, an oxidatively unstable mutation.
Frischer H, Bowman J
J Lab Clin Med 1975 Apr;85(4):531-9. PMID: 1120926
Some observations on the enzymatic stability of red cells in heterozygous and homozygous states for Hb.E.
Swarup-Mitra S, Ghosh SK, Chatterjea JB
Indian J Med Res 1970 Dec;58(12):1693-702. PMID: 5515466

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