RHD and RHCE genotyping by next-generation sequencing is an effective strategy to identify molecular variants within sickle cell disease patients

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorDEZAN, Marcia R.
dc.contributor.authorRIBEIRO, Ingrid Helena
dc.contributor.authorOLIVEIRA, Valeria B.
dc.contributor.authorVIEIRA, Juliana B.
dc.contributor.authorGOMES, Francisco C.
dc.contributor.authorFRANCO, Lucas A. M.
dc.contributor.authorVARUZZA, Leonardo
dc.contributor.authorRIBEIRO, Roberto
dc.contributor.authorCHINOCA, Karen Ziza
dc.contributor.authorLEVI, Jose Eduardo
dc.contributor.authorKRIEGER, Jose Eduardo
dc.contributor.authorPEREIRA, Alexandre Costa
dc.contributor.authorGUALANDRO, Sandra F. M.
dc.contributor.authorROCHA, Vanderson G.
dc.contributor.authorMENDRONE-JUNIOR, Alfredo
dc.contributor.authorSABINO, Ester Cerdeira
dc.contributor.authorDINARDO, Carla Luana
dc.date.accessioned2017-08-17T19:15:18Z
dc.date.available2017-08-17T19:15:18Z
dc.date.issued2017
dc.description.abstractBackground: The complexity of Rh genetic variation among sickle cell disease (SCD) patients is high. Conventional molecular assays cannot identify all genetic variants already described for the RH locus as well as foresee novel alleles. Sequencing RHD and RHCE is indicated to broaden the search for Rh genetic variants. Aims: To standardize the Next Generation Sequencing (NGS) strategy to assertively identify Rh genetic variants among SCD patients with serologic suspicion of Rh variants and evaluate if it can improve the transfusion support. Methods: Thirty-five SCD patients with unexplained Rh antibodies were enrolled. A NGS-based strategy was developed to genotype RHD and RHCE using gene-specific primers. Genotype and serological data were compared. Results: Data obtained from the NGS-based assay were gene-specific. Ten and 25 variant RHD and RHCE alleles were identified, respectively. Among all cases of unexplained Rh antibodies, 62% had been inaccurately classified by serological analysis and, of these, 73.1% were considered as relevant, as were associated with increased risk of hemolytic reactions and shortage of units suitable for transfusion. Conclusion: The NGS assay designed to genotype RH coding regions was effective and accurate in identifying variants. The proposed strategy clarified the Rh phenotype of most patients, improving transfusion support.
dc.description.indexMEDLINE
dc.description.sponsorshipSao Paulo Research Foundation (FAPESP) [2014/50250-6]
dc.identifier.citationBLOOD CELLS MOLECULES AND DISEASES, v.65, p.8-15, 2017
dc.identifier.doi10.1016/j.bcmd.2017.03.014
dc.identifier.eissn1096-0961
dc.identifier.issn1079-9796
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/21274
dc.language.isoeng
dc.publisherACADEMIC PRESS INC ELSEVIER SCIENCE
dc.relation.ispartofBlood Cells Molecules and Diseases
dc.rightsrestrictedAccess
dc.rights.holderCopyright ACADEMIC PRESS INC ELSEVIER SCIENCE
dc.subject.othertransfusion therapy
dc.subject.otheralloimmunization
dc.subject.otherphenotype
dc.subject.othermutation
dc.subject.otheralleles
dc.subject.wosHematology
dc.titleRHD and RHCE genotyping by next-generation sequencing is an effective strategy to identify molecular variants within sickle cell disease patients
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.author.externalVIEIRA, Juliana B.:Fundacao Prosangue Hemoctr Sao Paulo, Sao Paulo, Brazil
hcfmusp.author.externalVARUZZA, Leonardo:Univ Sao Paulo, Dept Infect Dis, Inst Trop Med, Sao Paulo, Brazil
hcfmusp.author.externalCHINOCA, Karen Ziza:Univ Sao Paulo, Sch Med, Discipline Hematol, Sao Paulo, Brazil
hcfmusp.citation.scopus33
hcfmusp.contributor.author-fmusphcMARCIA REGINA DEZAN
hcfmusp.contributor.author-fmusphcINGRID HELENA RIBEIRO
hcfmusp.contributor.author-fmusphcVALERIA BRITO OLIVEIRA
hcfmusp.contributor.author-fmusphcFRANCISCO CARLOS ALMEIDA GOMES
hcfmusp.contributor.author-fmusphcLUCAS AUGUSTO MOYSES FRANCO
hcfmusp.contributor.author-fmusphcROBERTO MARQUES RIBEIRO
hcfmusp.contributor.author-fmusphcJOSE EDUARDO LEVI
hcfmusp.contributor.author-fmusphcJOSE EDUARDO KRIEGER
hcfmusp.contributor.author-fmusphcALEXANDRE DA COSTA PEREIRA
hcfmusp.contributor.author-fmusphcSANDRA FATIMA MENOSI GUALANDRO
hcfmusp.contributor.author-fmusphcVANDERSON GERALDO ROCHA
hcfmusp.contributor.author-fmusphcALFREDO MENDRONE JUNIOR
hcfmusp.contributor.author-fmusphcESTER CERDEIRA SABINO
hcfmusp.contributor.author-fmusphcCARLA LUANA DINARDO
hcfmusp.description.beginpage8
hcfmusp.description.endpage15
hcfmusp.description.volume65
hcfmusp.origemWOS
hcfmusp.origem.pubmed28388467
hcfmusp.origem.scopus2-s2.0-85016757243
hcfmusp.origem.wosWOS:000403738600002
hcfmusp.publisher.citySAN DIEGO
hcfmusp.publisher.countryUSA
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