Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis

Artículo

Detalles Bibliográficos
Autores: Herrera Tirado, Isis Mariela, Espinoza Mata, Laura Lucía, Rizo De la Torre, Lourdes del Carmen, Becerra Solano, Luis Eduardo, Ibarra Cortés, Bertha, Perea Díaz, Francisco Javier
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:México
Institución:Universidad de Guadalajara
Repositorio:Repositorio UDG CUALTOS
OAI Identifier:oai:repositorio.cualtos.udg.mx:123456789/1354
Acceso en línea:https://doi.org/10.1089/gtmb.2021.0264
http://repositorio.cualtos.udg.mx:8080/jspui/handle/123456789/1354
Access Level:acceso abierto
Palabra clave:SPTA1 variants
alpha spectrins
hereditary spherocytosis
hematological phenotype
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spelling Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary SpherocytosisHerrera Tirado, Isis MarielaEspinoza Mata, Laura LucíaRizo De la Torre, Lourdes del CarmenBecerra Solano, Luis EduardoIbarra Cortés, BerthaPerea Díaz, Francisco JavierSPTA1 variantsalpha spectrinshereditary spherocytosishematological phenotypeArtículoAbstract Introduction: 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: ANK1, EPB42, SLC4A1, SPTA1, and SPTB. Alpha spectrin (SPTA1) deficiency is the second leading cause of HS in Mexican patients. Aim: To assess the effects of five SPTA1 variants on the hematological phenotype of Mexican patients with HS. Materials and Methods: This study included a retrospective cohort of 227 biologically unrelated patients with HS. Variants c.4339-99C>T and c.6531-12C>T in SPTA1 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. Results: The SPTA1 c.5992C>G variant showed association with moderately severe HS (p = 0.006, odds ratio = 5.67, confidence interval95% = 1.6–19.9); the risk increased when the variant was in compound heterozygosity with αLELY and c.6794T>C. Lower hematological levels were observed in simple αLely (c.5572C>T and c.6531-12C>T), and c.5992C>G heterozygotes (red blood cell [RBC] p = 0.028 and 0.010; hemoglobin [Hb] p = 0.030 and 0.002; packed cell volume [PCV] p = 0.034 and 0.002 respectively), and in c.5992C>G+c.6794T>C compound heterozygotes (RBC p = 0.043; Hb p = 0.033; PCV p = 0.043). Additional genetic traits were observed: 15% had HS+Gilbert syndrome and 13% HS+thalassemia. Conclusion: 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.Mary Ann Liebert Inc.2022-06-27T15:56:19Z2022-06-27T15:56:19Z2022-05info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleHerrera-Tirado, I.M.; Espinoza-Mata, L.; Rizo-Delatorre, L.C.; Becerra-Solano, L.E.; Ibarra-Cortés, B.; Perea-Díaz, F.J. (2022). Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis. Genetic Testing and Molecular Biomarkers Volume 26, Issue 5, Pages 270 – 276. https://doi.org/10.1089/gtmb.2021.02641945-0265https://doi.org/10.1089/gtmb.2021.0264http://repositorio.cualtos.udg.mx:8080/jspui/handle/123456789/1354reponame:Repositorio UDG CUALTOSinstname:Universidad de Guadalajarainstacron:UDGenGenetic Testing and Molecular Biomarkers;Volume 26, Issue 5, Pages 270 - 276info:eu-repo/semantics/openAccessoai:repositorio.cualtos.udg.mx:123456789/13542024-10-11T19:20:35Z
dc.title.none.fl_str_mv Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis
title Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis
spellingShingle Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis
Herrera Tirado, Isis Mariela
SPTA1 variants
alpha spectrins
hereditary spherocytosis
hematological phenotype
title_short Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis
title_full Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis
title_fullStr Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis
title_full_unstemmed Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis
title_sort Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis
dc.creator.none.fl_str_mv Herrera Tirado, Isis Mariela
Espinoza Mata, Laura Lucía
Rizo De la Torre, Lourdes del Carmen
Becerra Solano, Luis Eduardo
Ibarra Cortés, Bertha
Perea Díaz, Francisco Javier
author Herrera Tirado, Isis Mariela
author_facet Herrera Tirado, Isis Mariela
Espinoza Mata, Laura Lucía
Rizo De la Torre, Lourdes del Carmen
Becerra Solano, Luis Eduardo
Ibarra Cortés, Bertha
Perea Díaz, Francisco Javier
author_role author
author2 Espinoza Mata, Laura Lucía
Rizo De la Torre, Lourdes del Carmen
Becerra Solano, Luis Eduardo
Ibarra Cortés, Bertha
Perea Díaz, Francisco Javier
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv SPTA1 variants
alpha spectrins
hereditary spherocytosis
hematological phenotype
topic SPTA1 variants
alpha spectrins
hereditary spherocytosis
hematological phenotype
description Artículo
publishDate 2022
dc.date.none.fl_str_mv 2022-06-27T15:56:19Z
2022-06-27T15:56:19Z
2022-05
dc.type.none.fl_str_mv info:eu-repo/semantics/publishedVersion
info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv Herrera-Tirado, I.M.; Espinoza-Mata, L.; Rizo-Delatorre, L.C.; Becerra-Solano, L.E.; Ibarra-Cortés, B.; Perea-Díaz, F.J. (2022). Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis. Genetic Testing and Molecular Biomarkers Volume 26, Issue 5, Pages 270 – 276. https://doi.org/10.1089/gtmb.2021.0264
1945-0265
https://doi.org/10.1089/gtmb.2021.0264
http://repositorio.cualtos.udg.mx:8080/jspui/handle/123456789/1354
identifier_str_mv Herrera-Tirado, I.M.; Espinoza-Mata, L.; Rizo-Delatorre, L.C.; Becerra-Solano, L.E.; Ibarra-Cortés, B.; Perea-Díaz, F.J. (2022). Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis. Genetic Testing and Molecular Biomarkers Volume 26, Issue 5, Pages 270 – 276. https://doi.org/10.1089/gtmb.2021.0264
1945-0265
url https://doi.org/10.1089/gtmb.2021.0264
http://repositorio.cualtos.udg.mx:8080/jspui/handle/123456789/1354
dc.language.none.fl_str_mv en
language_invalid_str_mv en
dc.relation.none.fl_str_mv Genetic Testing and Molecular Biomarkers;Volume 26, Issue 5, Pages 270 - 276
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Mary Ann Liebert Inc.
publisher.none.fl_str_mv Mary Ann Liebert Inc.
dc.source.none.fl_str_mv reponame:Repositorio UDG CUALTOS
instname:Universidad de Guadalajara
instacron:UDG
instname_str Universidad de Guadalajara
instacron_str UDG
institution UDG
reponame_str Repositorio UDG CUALTOS
collection Repositorio UDG CUALTOS
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,812455

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