{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T23:31:14Z","timestamp":1789428674942,"version":"build-2803163510"},"reference-count":50,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,7,6]],"date-time":"2023-07-06T00:00:00Z","timestamp":1688601600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Glucose\u20106\u2010phosphate 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\u2010linked <jats:italic>G6PD<\/jats:italic> 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\u2010spherocytic haemolytic anaemia (CNSHA) are instead all rare. WHO recommends G6PD testing to guide 8\u2010aminoquinolines administration to prevent relapse of <jats:italic>Plasmodium vivax<\/jats:italic> 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 (<jats:italic>K<\/jats:italic><jats:sub>m<\/jats:sub><jats:sup>G6P<\/jats:sup>), suggesting a mechanism whereby polymorphic G6PD deficient variants do not entail CNSHA. Extensive overlap in G6PD activity values of individuals with different variants, and no clustering of mean values above or below 10% support the merger of class II and class III variants.<\/jats:p>","DOI":"10.1111\/bjh.18943","type":"journal-article","created":{"date-parts":[[2023,7,7]],"date-time":"2023-07-07T04:19:35Z","timestamp":1688703575000},"page":"1024-1032","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":44,"title":["Genetic variants causing G6PD deficiency: Clinical and biochemical data support new WHO classification"],"prefix":"10.1111","volume":"202","author":[{"given":"Caterina","family":"Nannelli","sequence":"first","affiliation":[{"name":"University of Florence  Florence Italy"},{"name":"Istituto per lo Studio, la Prevenzione e la Rete Oncologica, Core Research Laboratory  Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Bosman","sequence":"additional","affiliation":[{"name":"World Health Organisation, Global Malaria Programme  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Cunningham","sequence":"additional","affiliation":[{"name":"World Health Organisation, Global Malaria Programme  Geneva Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre\u2010Antoine","family":"Dugu\u00e9","sequence":"additional","affiliation":[{"name":"School of Clinical Sciences at Monash Health Monash University  Clayton Victoria Australia"},{"name":"Cancer Council Victoria  Melbourne Victoria Australia"},{"name":"Melbourne School of Population and Global Health The University of Melbourne  Parkville Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4663-8790","authenticated-orcid":false,"given":"Lucio","family":"Luzzatto","sequence":"additional","affiliation":[{"name":"University of Florence  Florence Italy"},{"name":"Muhimbili University of Health and Allied Sciences  Dar\u2010es\u2010Salaam Tanzania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,7,6]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pmed.1001339"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2019000944"},{"key":"e_1_2_7_4_1","first-page":"609","volume-title":"Nathan and Oski's hematology and oncology of infancy and childhood","author":"Luzzatto L","year":"2015"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1708111"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/cpt.2735"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2352-3026(15)00191-X"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2352-3026(15)00152-0"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.124.3220.484.b"},{"key":"e_1_2_7_10_1","first-page":"53","article-title":"Standardization of procedures for the study of glucose\u20106\u2010phosphate dehydrogenase","volume":"366","author":"Betke K","year":"1967","journal-title":"WHO Tech Rep Ser"},{"key":"e_1_2_7_11_1","first-page":"243","article-title":"Human glucose\u20106\u2010phosphate dehydrogenase variants","volume":"45","author":"Yoshida A","year":"1971","journal-title":"Bull World Health Organ"},{"key":"e_1_2_7_12_1","first-page":"601","article-title":"Glucose\u20106\u2010phosphate dehydrogenase deficiency","volume":"67","author":"WHO Working Group","year":"1989","journal-title":"Bull World Health Organ"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.300.6719.236"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2016.07.001"},{"key":"e_1_2_7_15_1","first-page":"208","article-title":"Neonatal jaundice in Ibadan. 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