Cited by 1,590Neonatal Health and BiochemistryHemoglobinopathies and Related DisordersGlycogen Storage Diseases and Myoclonus

Glucose-6-phosphate dehydrogenase deficiency

Cappellini, MD, Fiorelli, G·2008·The Lancet

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.

Integrity signals

Registry

Crossref · 10.1016/s0140-6736(08)60073-2

Cites

145 of 145 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • 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].”
  • 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).”
  • 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).”
  • 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)].”
  • 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)].”

Cites

Flagged first, then by citations

Cited by

Sorted by citations

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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review