Article ; Online: Genetic variants causing G6PD deficiency: Clinical and biochemical data support new WHO classification.
British journal of haematology
2023 Volume 202, Issue 5, Page(s) 1024–1032
Abstract: Glucose-6-phosphate dehydrogenase (G6PD) deficiency in erythrocytes causes acute haemolytic anaemia upon exposure to fava beans, drugs, or infection; and it predisposes to neonatal jaundice. The polymorphism of the X-linked G6PD gene has been studied ... ...
Abstract | Glucose-6-phosphate dehydrogenase (G6PD) deficiency in erythrocytes causes acute haemolytic anaemia upon exposure to fava beans, drugs, or infection; and it predisposes to neonatal jaundice. The polymorphism of the X-linked G6PD gene has been studied extensively: allele frequencies of up to 25% of different G6PD deficient variants are known in many populations; variants that cause chronic non-spherocytic haemolytic anaemia (CNSHA) are instead all rare. WHO recommends G6PD testing to guide 8-aminoquinolines administration to prevent relapse of Plasmodium vivax infection. From a literature review focused on polymorphic G6PD variants we have retrieved G6PD activity values of 2291 males, and for the mean residual red cell G6PD activity of 16 common variants we have obtained reliable estimates, that range from 1.9% to 33%. There is variation in different datasets: for most variants most G6PD deficient males have a G6PD activity below 30% of normal. There is a direct relationship between residual G6PD activity and substrate affinity (K |
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MeSH term(s) | Male ; Infant, Newborn ; Humans ; Glucosephosphate Dehydrogenase Deficiency/genetics ; Glucosephosphate Dehydrogenase/genetics ; Erythrocytes ; Polymorphism, Genetic ; Hemolysis ; World Health Organization |
Chemical Substances | Glucosephosphate Dehydrogenase (EC 1.1.1.49) |
Language | English |
Publishing date | 2023-07-06 |
Publishing country | England |
Document type | Review ; Journal Article |
ZDB-ID | 80077-6 |
ISSN | 1365-2141 ; 0007-1048 |
ISSN (online) | 1365-2141 |
ISSN | 0007-1048 |
DOI | 10.1111/bjh.18943 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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