Glucose-6-phosphate dehydrogenase deficiency
Abstract
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect, being present in more than 400 million people worldwide. The global distribution of this disorder is remarkably similar to that of malaria, lending support to the so-called malaria protection hypothesis. G6PD deficiency is an X-linked, hereditary genetic defect due to mutations in the G6PD gene, which cause functional variants with many biochemical and clinical phenotypes. About 140 mutations have been described: most are single base changes, leading to aminoacid substitutions. The most frequent clinical manifestations of G6PD deficiency are neonatal jaundice, and acute haemolytic anaemia, which is usually triggered by an exogenous agent. Some G6PD variants cause chronic haemolysis, leading to congenital non-spherocytic haemolytic anaemia. The most effective management of G6PD deficiency is to prevent haemolysis by avoiding oxidative stress. Screening programmes for the disorder are undertaken, depending on the prevalence of G6PD deficiency in a particular community.
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Kernicterus and severe hyperbilirubinemia are strongly associated with G6PD deficiency and can be exacerbated by haemolytic agents such as menthol and naphthalene.
“Kernicterus and severe hyperbilirubinemia are strongly associated with glucose-6-phosphate dehydrogenase (G6PD) deficiency [6, 16] and can be exacerbated by haemolytic agents such as menthol and naphthalene [17–20].”
From A Survey of Practice and Knowledge of Refugee and Migrant Pregnant Mothers Surrounding Neonatal Jaundice on the Thailand–Myanmar Border (2017) · cites this paper as [18]
G6PDH deficiency imparts different phenotypes, from acute hemolytic anemia to chronic hemolysis.
“G6PDH deficiency is one of the most common enzyme defects in humans due to multiple mutations of the G6PDH gene and imparts different phenotypes, from acute hemolytic anemia to chronic hemolysis (30).”
From Red Blood Cell Function and Dysfunction: Redox Regulation, Nitric Oxide Metabolism, Anemia (2017) · cites this paper as [30]
G6PDH deficiency is one of the most common enzyme defects in humans due to multiple mutations of the G6PDH gene.
“G6PDH deficiency is one of the most common enzyme defects in humans due to multiple mutations of the G6PDH gene and imparts different phenotypes, from acute hemolytic anemia to chronic hemolysis (30).”
From Red Blood Cell Function and Dysfunction: Redox Regulation, Nitric Oxide Metabolism, Anemia (2017) · cites this paper as [30]
Most G6PDH-deficient patients are asymptomatic throughout their lifetime.
“Most G6PDH-deficient patients are asymptomatic throughout their lifetime and acute hemolytic anemia only occurs when triggered with certain drugs (antimalarial drugs such as primaquine), infections (hepatitis A virus), or pro-oxidative ingredients in food [e.g., fava beans, as already observed by the antiques (30)].”
From Red Blood Cell Function and Dysfunction: Redox Regulation, Nitric Oxide Metabolism, Anemia (2017) · cites this paper as [30]
Acute hemolytic anemia in G6PDH deficiency occurs only when triggered with certain drugs, infections, or pro-oxidative ingredients in food.
“Most G6PDH-deficient patients are asymptomatic throughout their lifetime and acute hemolytic anemia only occurs when triggered with certain drugs (antimalarial drugs such as primaquine), infections (hepatitis A virus), or pro-oxidative ingredients in food [e.g., fava beans, as already observed by the antiques (30)].”
From Red Blood Cell Function and Dysfunction: Redox Regulation, Nitric Oxide Metabolism, Anemia (2017) · cites this paper as [30]
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- Authors
- Cappellini, M., & Fiorelli, G.
- Affiliations
- University of Milan (IT)
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 2008-01
- Volume
- 371
- Issue
- 9606
- Pages
- 64-74
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- OpenAlex
- W2088888368
- Cited by
- 1,590
- References
- 145
- Citations by year
- 2026: 67 · 2025: 70 · 2024: 76 · 2023: 72 · 2022: 98 · 2021: 97 · 2020: 118 · 2019: 84 · 2018: 87 · 2017: 104 · 2016: 98 · 2015: 90 · 2014: 96 · 2013: 110 · 2012: 91
- FWCI
- 9.48
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Lancet (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Neonatal Health and Biochemistry
- Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Keywords
- glucose-6-phosphate dehydrogenase deficiency, G6PD variants, X-linked inheritance, neonatal jaundice, acute hemolytic anemia, chronic hemolysis, oxidative stress, G6PD screening
- MeSH terms
- Anemia, Hemolytic, Female, Glucosephosphate Dehydrogenase, Glucosephosphate Dehydrogenase Deficiency, Humans, Infant, Newborn, Jaundice, Neonatal, Malaria, Male, Molecular Biology, Pentose Phosphate Pathway
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