Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/354346
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dc.contributor.CRUESPUNIVERSIDADE ESTADUAL DE CAMPINASpt_BR
dc.contributor.authorunicampSvidnicki, Maria Carolina Costa Melo-
dc.contributor.authorunicampCongrains Castillo, Ada-
dc.contributor.authorunicampCosta, Fernando Ferreira-
dc.contributor.authorunicampSaad, Sara Teresinha Olalla-
dc.typeArtigopt_BR
dc.titleTargeted next-generation sequencing identified novel mutations associated with hereditary anemias in Brazilpt_BR
dc.contributor.authorSvidnicki, M. C. C. M.-
dc.contributor.authorZanetta, G. K.-
dc.contributor.authorCongrains-Castillo, A.-
dc.contributor.authorCosta, F. F.-
dc.contributor.authorSaad, S. T. O.-
dc.subjectAnemia hemoliticapt_BR
dc.subject.otherlanguageHemolytic anemiapt_BR
dc.description.abstractHereditary anemias are a group of heterogeneous disorders including hemolytic anemias and hyporegenerative anemias, as congenital dyserythropoietic anemia (CDA). Causative mutations occur in a wide range of genes leading to deficiencies in red cell production, structure, or function. The genetic screening of the main genes is important for timely diagnosis, since routine laboratory tests fail in a percentage of the cases, appropriate treatment decisions, and genetic counseling purposes. A conventional gene-by-gene sequencing approach is expensive and highly time-consuming, due to the genetic complexity of these diseases. To overcome this problem, we customized a targeted sequencing panel covering 35 genes previously associated to red cell disorders. We analyzed 36 patients, and potentially pathogenic variants were identified in 26 cases (72%). Twenty variants were novel. Remarkably, mutations in the SPTB gene (β-spectrin) were found in 34.6% of the patients with hereditary spherocytosis (HS), suggesting that SPTB is a major HS gene in the Southeast of Brazil. We also identified two cases with dominant HS presenting null mutations in trans with α-LELY in SPTA1 gene. This is the first comprehensive genetic analysis for hereditary anemias in the Brazilian population, contributing to a better understanding of the genetic basis and phenotypic consequences of these rare conditions in our populationpt_BR
dc.relation.ispartofAnnals of hematologypt_BR
dc.relation.ispartofabbreviationAnn. hematol.pt_BR
dc.publisher.cityNew York, NYpt_BR
dc.publisher.countryEstados Unidospt_BR
dc.publisherSpringerpt_BR
dc.date.issued2020-
dc.date.monthofcirculationMaypt_BR
dc.language.isoengpt_BR
dc.description.volume99pt_BR
dc.description.firstpage955pt_BR
dc.description.lastpage962pt_BR
dc.rightsFechadopt_BR
dc.sourceWOSpt_BR
dc.identifier.issn0939-5555pt_BR
dc.identifier.eissn1432-0584pt_BR
dc.identifier.doi10.1007/s00277-020-03986-8pt_BR
dc.identifier.urlhttps://link.springer.com/article/10.1007%2Fs00277-020-03986-8pt_BR
dc.description.sponsorshipFUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO - FAPESPpt_BR
dc.description.sponsordocumentnumberSem informaçãopt_BR
dc.date.available2021-01-20T14:14:07Z-
dc.date.accessioned2021-01-20T14:14:07Z-
dc.description.provenanceSubmitted by Thais de Brito Barroso (tbrito@unicamp.br) on 2021-01-20T14:14:07Z No. of bitstreams: 0en
dc.description.provenanceMade available in DSpace on 2021-01-20T14:14:07Z (GMT). No. of bitstreams: 0 Previous issue date: 2020en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/354346-
dc.contributor.departmentSem informaçãopt_BR
dc.contributor.departmentSem informaçãopt_BR
dc.contributor.departmentDepartamento de Clínica Médicapt_BR
dc.contributor.departmentDepartamento de Clínica Médicapt_BR
dc.contributor.unidadeCentro de Hematologia e Hemoterapiapt_BR
dc.contributor.unidadeCentro de Hematologia e Hemoterapiapt_BR
dc.contributor.unidadeFaculdade de Ciências Médicaspt_BR
dc.contributor.unidadeFaculdade de Ciências Médicaspt_BR
dc.subject.keywordNGSpt_BR
dc.subject.keywordRBC membrane defectpt_BR
dc.subject.keywordHereditary spherocytosispt_BR
dc.subject.keywordHereditary anemiaspt_BR
dc.identifier.source000524623000001pt_BR
dc.creator.orcidSem informaçãopt_BR
dc.creator.orcidSem informaçãopt_BR
dc.creator.orcidSem informaçãopt_BR
dc.creator.orcid0000-0003-0809-8068pt_BR
dc.type.formArtigo originalpt_BR
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