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Abnormal glucose-6-phosphate dehydrogenase level in red blood cells

MedGen UID:
1643932
•Concept ID:
C4703670
•
Finding
Synonyms: Abnormal G6PD level in RBCs; Abnormal G6PD level in red blood cells
 
HPO: HP:0410184

Definition

An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells. [from HPO]

Recent clinical studies

Etiology

Cryopreservation of glucose-6-phosphate dehydrogenase activity inside red blood cells: developing a specimen repository in support of development and evaluation of glucose-6-phosphate dehydrogenase deficiency tests.
Kahn M, LaRue N, Bansil P, Kalnoky M, McGray S, Domingo GJ
Malar J 2013 Aug 20;12:286. doi: 10.1186/1475-2875-12-286. PMID: 23961874Free PMC Article
Glucose-6-phosphate dehydrogenase (G6PD) deficiency in nonarteritic anterior ischemic optic neuropathy in a Sardinian population, Italy.
Pinna A, Solinas G, Masia C, Zinellu A, Carru C, Carta A
Invest Ophthalmol Vis Sci 2008 Apr;49(4):1328-32. doi: 10.1167/iovs.07-1115. PMID: 18385045
Glucose-6-phosphate dehydrogenase deficiency in retinal vein occlusion.
Pinna A, Carru C, Solinas G, Zinellu A, Carta F
Invest Ophthalmol Vis Sci 2007 Jun;48(6):2747-52. doi: 10.1167/iovs.06-1064. PMID: 17525208
G-6-PD activity of the red cells in chronic renal failure.
Mellissinos KG, Vlassopoulos KS, Drivas GJ, Tsoukandas AG
Nephron 1977;18(3):156-61. doi: 10.1159/000180809. PMID: 870844
In vivo lability of glucose-6-phosphate dehydrogenase in GdA- and GdMediterranean deficiency.
Piomelli S, Corash LM, Davenport DD, Miraglia J, Amorosi EL
J Clin Invest 1968 Apr;47(4):940-8. doi: 10.1172/JCI105786. PMID: 5641629Free PMC Article

Diagnosis

Screening of subclinical functional hemoglobin and red blood cell abnormalities among blood donors of Fayoum University Hospital in Egypt: Are RET-He, and IRF useful screening tools?
Bakr S, Yousief E, Ezzat EM, Elsary AY, Elamir AM, Gamal M
Transfus Apher Sci 2023 Oct;62(5):103781. Epub 2023 Jul 27 doi: 10.1016/j.transci.2023.103781. PMID: 37524581
Decreased glucose-6-phosphate dehydrogenase activity along with oxidative stress affects visual contrast sensitivity in alcoholics.
Pramanik S, Ganguly U, Khemka VK, Banerjee A
Alcohol 2018 Dec;73:17-24. Epub 2018 Mar 21 doi: 10.1016/j.alcohol.2018.03.007. PMID: 30172164
Glucose-6-Phosphate Dehydrogenase Deficiency.
Luzzatto L, Nannelli C, Notaro R
Hematol Oncol Clin North Am 2016 Apr;30(2):373-93. doi: 10.1016/j.hoc.2015.11.006. PMID: 27040960
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
Chemical toxicity of red cells.
Piomelli S
Environ Health Perspect 1981 Jun;39:65-70. doi: 10.1289/ehp.813965. PMID: 7016524Free PMC Article

Therapy

Hematological parameters and red blood cell morphological abnormality of Glucose-6-Phosphate dehydrogenase deficiency co-inherited with thalassemia.
Pengon J, Svasti S, Kamchonwongpaisan S, Vattanaviboon P
Hematol Oncol Stem Cell Ther 2018 Mar;11(1):18-24. Epub 2017 Jun 15 doi: 10.1016/j.hemonc.2017.05.029. PMID: 28641093
Dexmedetomidine-based intravenous anesthesia of a pediatric patient with glucose-6-phosphate dehydrogenase (G6PD) deficiency: A case report.
Takahashi N, Ogawa T, Wajima Z, Omi A
Medicine (Baltimore) 2017 May;96(21):e6986. doi: 10.1097/MD.0000000000006986. PMID: 28538406Free PMC Article
Acquired hemoglobin variants and exposure to glucose-6-phosphate dehydrogenase deficient red blood cell units during exchange transfusion for sickle cell disease in a patient requiring antigen-matched blood.
Raciti PM, Francis RO, Spitalnik PF, Schwartz J, Jhang JS
J Clin Apher 2013 Aug;28(4):325-9. Epub 2013 Mar 1 doi: 10.1002/jca.21255. PMID: 23450789
Morphologic, biochemical, and cytogenetic studies of bone marrow and circulating blood cells in painters exposed to ethylene glycol ethers.
Cullen MR, Solomon LR, Pace PE, Buckley P, Duffy TP, McPhedran P, Kelsey KT, Redlich CA
Environ Res 1992 Oct;59(1):250-64. doi: 10.1016/s0013-9351(05)80244-0. PMID: 1425515
Favism: impairment of proteolytic systems in red blood cells.
Morelli A, Grasso M, Meloni T, Forteleoni G, Zocchi E, De Flora A
Blood 1987 Jun;69(6):1753-8. PMID: 3034353

Prognosis

Screening of subclinical functional hemoglobin and red blood cell abnormalities among blood donors of Fayoum University Hospital in Egypt: Are RET-He, and IRF useful screening tools?
Bakr S, Yousief E, Ezzat EM, Elsary AY, Elamir AM, Gamal M
Transfus Apher Sci 2023 Oct;62(5):103781. Epub 2023 Jul 27 doi: 10.1016/j.transci.2023.103781. PMID: 37524581
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
Clonal hematopoiesis and acquired thalassemia in common variable immunodeficiency.
Belickova M, Schroeder HW Jr, Guan YL, Brierre J, Berney S, Cooper MD, Prchal JT
Mol Med 1994 Nov;1(1):56-61. PMID: 8790601Free PMC Article
Favism: impairment of proteolytic systems in red blood cells.
Morelli A, Grasso M, Meloni T, Forteleoni G, Zocchi E, De Flora A
Blood 1987 Jun;69(6):1753-8. PMID: 3034353
Idiopathic acquired refractory sideroblastic anemia: Banded chromosome analysis in six patients.
Bitran J, Golomb HM, Rowley JD
Acta Haematol 1977;57(1):15-23. doi: 10.1159/000207855. PMID: 402761

Clinical prediction guides

Decreased glucose-6-phosphate dehydrogenase activity along with oxidative stress affects visual contrast sensitivity in alcoholics.
Pramanik S, Ganguly U, Khemka VK, Banerjee A
Alcohol 2018 Dec;73:17-24. Epub 2018 Mar 21 doi: 10.1016/j.alcohol.2018.03.007. PMID: 30172164
Hematological parameters and red blood cell morphological abnormality of Glucose-6-Phosphate dehydrogenase deficiency co-inherited with thalassemia.
Pengon J, Svasti S, Kamchonwongpaisan S, Vattanaviboon P
Hematol Oncol Stem Cell Ther 2018 Mar;11(1):18-24. Epub 2017 Jun 15 doi: 10.1016/j.hemonc.2017.05.029. PMID: 28641093
Glucose-6-phosphatedehydrogenase is also increased in erythrocytes from adolescents with Down syndrome.
Ordonez FJ, Rosety-Plaza M, Rosety-Rodriguez M
Downs Syndr Res Pract 2006 Sep;11(2):84-7. doi: 10.3104/reports.318. PMID: 17048802
Favism: impairment of proteolytic systems in red blood cells.
Morelli A, Grasso M, Meloni T, Forteleoni G, Zocchi E, De Flora A
Blood 1987 Jun;69(6):1753-8. PMID: 3034353
Chemical toxicity of red cells.
Piomelli S
Environ Health Perspect 1981 Jun;39:65-70. doi: 10.1289/ehp.813965. PMID: 7016524Free PMC Article

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