{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T12:08:10Z","timestamp":1759838890052},"reference-count":38,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,11,29]],"date-time":"2021-11-29T00:00:00Z","timestamp":1638144000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Glucose\u20106\u2010phosphate dehydrogenase (G6PD) deficiency, hereditary spherocytosis (HS), and alpha thalassemia (\u03b1\u2010thal) are frequent erythrocyte pathologies with different geographic distributions worldwide. Our aim is to report hematological and molecular findings of G6PD deficient Mexican patients in coinheritance with suggestive hereditary spherocytosis (sHS) and \u03b1\u2010thal.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We studied 78 G6PD deficiency patients. Hematological parameters, acidified glycerol lysis test, erythrocyte morphology, electrophoresis, and hemoglobin quantification were obtained. <jats:italic>G6PD<\/jats:italic> and <jats:italic>HBA2<\/jats:italic>\/<jats:italic>HBA1<\/jats:italic> variants were identified using ARMS\u2010PCR, Gap\u2010PCR, or Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Nine <jats:italic>G6PD<\/jats:italic> variants were identified; A<jats:sup>\u2013202A\/376G<\/jats:sup>, A<jats:sup>\u2013376G\/968C<\/jats:sup>, and A<jats:sup>+376G<\/jats:sup> as the most frequent. G6PD Santiago de Cuba<jats:sup>1339A<\/jats:sup> and Kamiube<jats:sup>1387T<\/jats:sup> were detected in Mexicans for first time. Hematological analysis revealed additional erythrocyte pathologies in 52 patients, 32 with positive osmotic fragility test and spherocytes in blood smear (suggestive hereditary spherocytosis, sHS), 12 with microcytosis and 8 with all three defects who had the most severe phenotype, with significantly lower hematological parameters (Hb, PCV, MCV, and MCH). \u03b1\u2010thal variants (\u03b1<jats:sup>Hph<\/jats:sup>\u03b1, \u03b1<jats:sup>\u201359C&gt;T<\/jats:sup>\u03b1 and \u2010\u03b1<jats:sup>3.7<\/jats:sup>) were observed in 65% of patients with microcytosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Additional erythrocyte defects were observed in 69.3% of G6PD deficiency patients. We stress the importance of searching for the presence of additional erythrocyte hereditary diseases in patients with G6PD deficiency.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ahg.12451","type":"journal-article","created":{"date-parts":[[2021,11,29]],"date-time":"2021-11-29T23:19:21Z","timestamp":1638227961000},"page":"87-93","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Hematological and molecular analysis of patients with G6PD deficiency revealed coexistent hereditary spherocytosis and alpha thalassemia"],"prefix":"10.1111","volume":"86","author":[{"given":"Lourdes del Carmen","family":"Rizo\u2010delaTorre","sequence":"first","affiliation":[{"name":"Divisi\u00f3n de Medicina Molecular. 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