{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:29:51Z","timestamp":1777660191439,"version":"3.51.4"},"reference-count":25,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"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":[[2026,2,1]]},"abstract":"\n Red blood cell (RBC) membranopathies, caused by genetic alterations in membrane and cytoskeletal proteins, lead to significant variability in clinical presentation. This study analyzes 23 single nucleotide variants across nine genes (\n ADD1, ADD2, ANK1, EPB41, PIEZO1, SLC4A1, SPTA1, SPTB<\/jats:italic>\n , and\n TAF3<\/jats:italic>\n ) in 225 Mexican patients with suspected RBC membranopathies and their effects on hematological parameters. Key variants, such as\n ADD2:c.1797C>T<\/jats:italic>\n ,\n SPTA1:c.5992G>C<\/jats:italic>\n ,\n SPTA1:c.6046C>A<\/jats:italic>\n and\n SPTA1:c.6531-12C>T<\/jats:italic>\n , were significantly associated with decreased RBC count, hemoglobin levels, packed cell volume, mean corpuscular hemoglobin and\/or mean corpuscular hemoglobin concentration. Additionally, the following six combinations showed significant associations with two or three hematological parameters:\n SPTA1<\/jats:italic>\n :c.5992G>C +\n SPTA1<\/jats:italic>\n :c.6046C>A,\n SPTA1<\/jats:italic>\n :c.5992G>C +\n ADD1<\/jats:italic>\n :c.1378G>T,\n ADD1<\/jats:italic>\n :c.1378G>T +\n ADD2<\/jats:italic>\n :c.1797C>T,\n ADD1<\/jats:italic>\n :c.1378G>T +\n PIEZO1<\/jats:italic>\n :c.6793A>G,\n ADD2<\/jats:italic>\n :c.1797C>T +\n PIEZO1<\/jats:italic>\n :c.6793A>G, and\n TAF3<\/jats:italic>\n :c.410-2550A>G +\n SPTA1<\/jats:italic>\n :c.6531-12C>T. These findings underscore the importance of selected population genetic studies to increase our understanding of genotype\u2013hematological phenotype relationships in RBC membranopathies.\n <\/jats:p>","DOI":"10.1177\/19450265261417994","type":"journal-article","created":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T10:51:30Z","timestamp":1770115890000},"page":"41-47","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Analysis of 23 SNVs of Nine Genes Involved in RBC Membranopathies with the Hematological Parameters of Mexican Patients"],"prefix":"10.1177","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1372-0985","authenticated-orcid":false,"given":"Laura Luc\u00eda","family":"Espinoza-Mata","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"}]},{"given":"Isis Mariela","family":"Herrera-Tirado","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"}]},{"given":"Francisco Javier","family":"Borrayo-L\u00f3pez","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"}]},{"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."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2026,2,3]]},"reference":[{"key":"e_1_3_3_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.16244"},{"key":"e_1_3_3_3_1","doi-asserted-by":"publisher","DOI":"10.1039\/b919671d"},{"key":"e_1_3_3_4_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2016.142463"},{"key":"e_1_3_3_5_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2019.00815"},{"key":"e_1_3_3_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2004.05160.x"},{"key":"e_1_3_3_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24076513"},{"key":"e_1_3_3_8_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI127195"},{"key":"e_1_3_3_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms242317021"},{"key":"e_1_3_3_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000486229"},{"issue":"1","key":"e_1_3_3_11_1","first-page":"78","article-title":"SNV associations with RBC parameters in Mexican hereditary spherocytosis","volume":"15","author":"Herrera-Tirado E","year":"2022","unstructured":"Herrera-Tirado E, , Morales P, , Rodr\u00edguez A. SNV associations with RBC parameters in Mexican hereditary spherocytosis. 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