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Herein, we describe the early natural clinical course and the underlying\n                      <jats:italic>GDPD<\/jats:italic>\n                      genotypes in infants with G6PDd detected by newborn screening and later studied in a single follow-up center. G6PDd newborns were categorized into three groups: group 1: hospitalized with or without neonatal jaundice (NNJ); group 2: non-hospitalized with NNJ; and group 3: asymptomatic. Frequencies of homozygous\n                      <jats:italic>UGT1A1*28<\/jats:italic>\n                      (rs34983651) genotypes among G6PDd patients with or without NNJ were also explored.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 81 newborns (80 males, one female) were included. Most individuals (46.9%) had NNJ without other symptoms, followed by asymptomatic (42.0%) and hospitalized (11.1%) patients, although the hospitalization of only 3 of these patients was related to G6PDd, including NNJ or acute hemolytic anemia (AHA). Nine different G6PDd genotypes were found; the G6PD A\n                      <jats:sup>\u2212202A\/376G<\/jats:sup>\n                      genotype was the most frequent (60.5%), followed by the G6PD A\n                      <jats:sup>\u2212376G\/968C<\/jats:sup>\n                      (22.2%) and the Union-Maewo (rs398123546, 7.4%) genotypes. These genotypes produce a wide range of clinical and biochemical phenotypes with significant overlapping residual enzymatic activity values among class I, II or III variants. Some G6PD A\n                      <jats:sup>\u2212202A\/376G<\/jats:sup>\n                      individuals had enzymatic values that were close to the cutoff value (5.3\u00a0U\/g Hb, 4.6 and 4.8\u00a0U\/g Hb in the groups with and without NNJ, respectively), while others showed extremely low enzymatic values (1.1\u00a0U\/g Hb and 1.4\u00a0U\/g Hb in the groups with and without NNJ, respectively). Homozygosity for\n                      <jats:italic>UGT1A1*28<\/jats:italic>\n                      among G6PDd patients with (11.9%, N\u2009=\u20095\/42) or without (10.3%, N\u2009=\u20094\/39) NNJ did not shown significant statistical difference (p\u2009=\u20090.611).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Wide variability in residual enzymatic activity was noted in G6PDd individuals with the same G6PD genotype. This feature, along with a documented heterogeneous mutational spectrum, makes it difficult to categorize G6PD variants according to current WHO classification and precludes the prediction of complications such as AHA, which can occur even with\u2009&gt;\u200910% of residual enzymatic activity and\/or be associated with the common and mild G6PD A\n                      <jats:sup>\u2212376G\/968C<\/jats:sup>\n                      and G6PD A\n                      <jats:sup>\u2212202A\/376G<\/jats:sup>\n                      haplotypes.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-021-01693-9","type":"journal-article","created":{"date-parts":[[2021,2,26]],"date-time":"2021-02-26T09:03:15Z","timestamp":1614330195000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening"],"prefix":"10.1186","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8230-4611","authenticated-orcid":false,"given":"Marcela","family":"Vela-Amieva","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0592-8214","authenticated-orcid":false,"given":"Miguel Angel","family":"Alc\u00e1ntara-Ortigoza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7096-0969","authenticated-orcid":false,"given":"Ariadna","family":"Gonz\u00e1lez-del Angel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3691-3659","authenticated-orcid":false,"given":"Leticia","family":"Belmont-Mart\u00ednez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2461-4555","authenticated-orcid":false,"given":"Carlos","family":"L\u00f3pez-Candiani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8693-8531","authenticated-orcid":false,"given":"Isabel","family":"Ibarra-Gonz\u00e1lez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,2,26]]},"reference":[{"issue":"8","key":"1693_CR1","doi-asserted-by":"publisher","first-page":"2732","DOI":"10.3390\/ijms21082732","volume":"21","author":"V Mart\u00ednez-Rosas","year":"2020","unstructured":"Mart\u00ednez-Rosas V, Ju\u00e1rez-Cruz MV, Ram\u00edrez-Nava EJ, Hern\u00e1ndez-Ochoa B, Morales-Luna L, Gonz\u00e1lez-Valdez A, et al. 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