{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T09:00:10Z","timestamp":1780909210471,"version":"3.54.1"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T00:00:00Z","timestamp":1773878400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T00:00:00Z","timestamp":1773878400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100007388","name":"Compagnia di San Paolo","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007388","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    Glucose\u20106\u2010phosphate dehydrogenase (G6PD) deficiency is the most common inherited enzymopathy worldwide. Current neonatal screening, based on enzymatic assays, often fails to identify heterozygous females due to X\u2010chromosome inactivation. This study aimed to characterize by genotype, enzymatic activity and haematological parameters infants carrying pathogenic G6PD variants and to explore genotype\u2013phenotype correlations. Within the NeoGen project, 4067 newborns underwent whole\u2010exome sequencing (WES). Infants with pathogenic or likely pathogenic variants of the\n                    <jats:italic>G6PD<\/jats:italic>\n                    gene were tested for quantitative enzyme activity and haematological indices. Pathogenic or likely pathogenic\n                    <jats:italic>G6PD<\/jats:italic>\n                    variants were found in 123 infants (3.0%); 107 completed full laboratory assessment. Enzymatic deficiency was observed in hemizygous males, while over 60% of heterozygous females showed normal enzyme levels and would have been missed by enzymatic screening. Males exhibited lower G6PD activity, higher reticulocyte counts and lower haemoglobin than females. Enzymatic and haematological variability was greater among females, underscoring the complexity of genotype\u2013phenotype relationships. Enzymatic screening alone misses a significant proportion of affected females. Incorporating molecular testing into neonatal screening improves diagnostic accuracy, supports preventive strategies and promotes equity in early\u2010life healthcare. These findings support the feasibility of combining molecular and enzymatic screening within large\u2010scale genomic screening programmes.\n                  <\/jats:p>","DOI":"10.1111\/bjh.70441","type":"journal-article","created":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T01:15:01Z","timestamp":1773969301000},"page":"1777-1784","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Neonatal genetic screening of Glucose\u20106\u2010phosphate dehydrogenase deficiency through next\u2010generation sequencing"],"prefix":"10.1111","volume":"208","author":[{"given":"Sabrina","family":"Bombaci","sequence":"first","affiliation":[{"name":"Paediatric Onco\u2010Hematology, Stem Cell Transplantation and Cellular Therapy Division Regina Margherita Children's Hospital  Turin Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Quarello","sequence":"additional","affiliation":[{"name":"Paediatric Onco\u2010Hematology, Stem Cell Transplantation and Cellular Therapy Division Regina Margherita Children's Hospital  Turin Italy"},{"name":"Department of Paediatric and Public Health Sciences University of Turin  Turin Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Del Borrello","sequence":"additional","affiliation":[{"name":"Paediatric Onco\u2010Hematology, Stem Cell Transplantation and Cellular Therapy Division Regina Margherita Children's Hospital  Turin Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica","family":"Barat","sequence":"additional","affiliation":[{"name":"Paediatric Onco\u2010Hematology, Stem Cell Transplantation and Cellular Therapy Division Regina Margherita Children's Hospital  Turin Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-1874-4044","authenticated-orcid":false,"given":"Valentina","family":"Di Martino","sequence":"additional","affiliation":[{"name":"Paediatric Onco\u2010Hematology, Stem Cell Transplantation and Cellular Therapy Division Regina Margherita Children's Hospital  Turin Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4055-3139","authenticated-orcid":false,"given":"Celeste","family":"Cagnazzo","sequence":"additional","affiliation":[{"name":"Paediatric Onco\u2010Hematology, Stem Cell Transplantation and Cellular Therapy Division Regina Margherita Children's Hospital  Turin Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Zucchetti","sequence":"additional","affiliation":[{"name":"Paediatric Onco\u2010Hematology, Stem Cell Transplantation and Cellular Therapy Division Regina Margherita Children's Hospital  Turin Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enza","family":"Pavanello","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Azienda Ospedaliera Universitaria Citta della Salute e della Scienza  Turin Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saverio","family":"Minucci","sequence":"additional","affiliation":[{"name":"Italian Institute for Genomic Medicine, IRCCS  Candiolo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franca","family":"Fagioli","sequence":"additional","affiliation":[{"name":"Paediatric Onco\u2010Hematology, Stem Cell Transplantation and Cellular Therapy Division Regina Margherita Children's Hospital  Turin Italy"},{"name":"Department of Paediatric and Public Health Sciences University of Turin  Turin Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,19]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2019000944"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2012.01.001"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.19775"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2023.01.003"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2023.10.003"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.875877"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1708111"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/cpt.2735"},{"issue":"2","key":"e_1_2_11_10_1","first-page":"405","article-title":"Semiquantitative screening test for G6PD deficiency detects severe deficiency but misses a substantial proportion of partially\u2010deficient females","volume":"34","author":"Ainoon O","year":"2003","journal-title":"Southeast Asian J Trop Med Public 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