{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:39:04Z","timestamp":1777660744999,"version":"3.51.4"},"reference-count":34,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2022,5]]},"abstract":"\n Introduction:<\/jats:title>\n \n Hereditary spherocytosis (HS) is a common hereditary hemolytic anemia characterized by chronic hemolysis, increased indirect serum bilirubin, the presence of reticulocytes and spherocytes in blood smears, and great heterogeneity at the clinical, biochemical, and molecular levels. The molecular pathology of HS includes genetic variants at five genes:\n ANK1<\/jats:italic>\n ,\n EPB42<\/jats:italic>\n ,\n SLC4A1<\/jats:italic>\n ,\n SPTA1<\/jats:italic>\n , and\n SPTB<\/jats:italic>\n . Alpha spectrin (\n SPTA1<\/jats:italic>\n ) deficiency is the second leading cause of HS in Mexican patients.\n <\/jats:p>\n <\/jats:sec>\n \n Aim:<\/jats:title>\n \n To assess the effects of five\n SPTA1<\/jats:italic>\n variants on the hematological phenotype of Mexican patients with HS.\n <\/jats:p>\n <\/jats:sec>\n \n Materials and Methods:<\/jats:title>\n \n This study included a retrospective cohort of 227 biologically unrelated patients with HS. Variants c.4339-99C>T and c.6531-12C>T in\n SPTA1<\/jats:italic>\n were identified by the amplification-refractory mutation system polymerase chain reaction (ARMS-PCR), and variants c.5572C>T, c.5992C>G, and c.6794T>C were identified by quantitive Real Time-Polymerase Chain Reaction (qRT-PCR) allelic discrimination. Risk tests were performed for each variant with respect to HS clinical severity.\n <\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n \n The\n SPTA1<\/jats:italic>\n c.5992C>G variant showed association with moderately severe HS (\n p<\/jats:italic>\n \u2009=\u20090.006, odds ratio\u2009=\u20095.67, confidence interval\n 95%<\/jats:sub>\n \u2009=\u20091.6-19.9); the risk increased when the variant was in compound heterozygosity with \u03b1\n LELY<\/jats:sup>\n and c.6794T>C. Lower hematological levels were observed in simple \u03b1\n Lely<\/jats:sup>\n (c.5572C>T and c.6531-12C>T), and c.5992C>G heterozygotes (red blood cell [RBC]\n p<\/jats:italic>\n \u2009=\u20090.028 and 0.010; hemoglobin [Hb]\n p<\/jats:italic>\n \u2009=\u20090.030 and 0.002; packed cell volume [PCV]\n p<\/jats:italic>\n \u2009=\u20090.034 and 0.002 respectively), and in c.5992C>G+c.6794T>C compound heterozygotes (RBC\n p<\/jats:italic>\n \u2009=\u20090.043; Hb\n p<\/jats:italic>\n \u2009=\u20090.033; PCV\n p<\/jats:italic>\n \u2009=\u20090.043). Additional genetic traits were observed: 15% had HS+Gilbert syndrome and 13% HS+thalassemia.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion:<\/jats:title>\n Although most of the studied variants are considered benign, we observed significant associations with phenotypic severity. Therefore, we recommend the inclusion of these variants in molecular screening for HS.<\/jats:p>\n <\/jats:sec>","DOI":"10.1089\/gtmb.2021.0264","type":"journal-article","created":{"date-parts":[[2022,5,31]],"date-time":"2022-05-31T09:50:43Z","timestamp":1653990643000},"page":"270-276","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Effects of\n SPTA1<\/i>\n Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis"],"prefix":"10.1177","volume":"26","author":[{"given":"Isis Mariela","family":"Herrera-Tirado","sequence":"first","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica, Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, M\u00e9xico."},{"name":"Doctorado en Gen\u00e9tica Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, M\u00e9xico."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1372-0985","authenticated-orcid":false,"given":"Laura Lucia","family":"Espinoza-Mata","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica, Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, M\u00e9xico."},{"name":"Doctorado en Gen\u00e9tica Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, M\u00e9xico."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5482-1611","authenticated-orcid":false,"given":"Lourdes del Carmen","family":"Rizo-delaTorre","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Medicina Molecular, Centro de Investigaci\u00f3n Biom\u00f3dica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, M\u00e9xico."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis Eduardo","family":"Becerra-Solano","sequence":"additional","affiliation":[{"name":"Departamento de Cl\u00ednicas, Divisi\u00f3n de Ciencias Biom\u00e9dicas, Centro Universitario de los Altos, Universidad de Guadalajara, Tepatitl\u00e1n de Morelos, Jalisco, M\u00e9xico."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bertha","family":"Ibarra-Cort\u00e9s","sequence":"additional","affiliation":[{"name":"Doctorado en Gen\u00e9tica Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, M\u00e9xico."},{"name":"Instituto de Gen\u00e9tica Humana \u201cDr. Enrique Corona Rivera,\u201d Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, M\u00e9xico."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco Javier","family":"Perea-D\u00edaz","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica, Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, M\u00e9xico."},{"name":"Doctorado en Gen\u00e9tica Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, M\u00e9xico."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2022,5,27]]},"reference":[{"key":"e_1_3_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.16244"},{"key":"e_1_3_5_3_1","first-page":"788","article-title":"Helix propensities of conformationally restricted amino acids","volume":"8","author":"Al\u00edas M","year":"2010","unstructured":"Al\u00edas M, , Ayuso-Tejedor S, , Fern\u00e1ndez-Recio J, et al. (2010) Helix propensities of conformationally restricted amino acids. Non-natural substitutes for helix breaking proline and helix forming alanine. Org Biomol Chem, 8:788-792.","journal-title":"Non-natural substitutes for helix breaking proline and helix forming alanine. Org Biomol Chem"},{"key":"e_1_3_5_4_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2016.142463"},{"key":"e_1_3_5_5_1","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.2001.0481"},{"key":"e_1_3_5_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.275.5.3279"},{"key":"e_1_3_5_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.14.8170"},{"key":"e_1_3_5_8_1","first-page":"37","article-title":"General Haematology Task Force of the British Committee for Standards in Haematology","volume":"156","author":"Bolton-Maggs PH","year":"2012","unstructured":"Bolton-Maggs PH, , Langer JC, , Iolascon A, et al. (2012) General Haematology Task Force of the British Committee for Standards in Haematology. 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