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Genotypic diversity among Angolan children with sickle cell anemia

2021-05Journal article Open access
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dc.contributor.authorDelgadinho, Mariana
dc.contributor.authorGinete, Catarina
dc.contributor.authorSantos, Brígida
dc.contributor.authorMiranda, Armandina
dc.contributor.authorBrito, Miguel
dc.date.accessioned2021-05-20T12:06:22Z
dc.date.available2021-05-20T12:06:22Z
dc.date.issued2021-05
dc.descriptionProject FCT/Aga Khan (nº 330842553).pt_PT
dc.descriptionFCT_UIDB/05608/2020. FCT_UIDP/05608/2020.pt_PT
dc.description.abstractBackground. Sickle cell anemia (SCA) is an inherited blood disorder that affects over 300,000 newborns worldwide every year, being particularly prevalent in Sub-Saharan Africa. Despite being a monogenic disease, SCA shows a remarkably high clinical heterogeneity. Several studies have already demonstrated the existence of some polymorphisms that can provide major clinical benefits, producing a mild phenotype. Moreover, the existence of distinct haplotypes can also influence the phenotype patterns of certain populations, leading to different clinical manifestations. Our aim was to assess the association between polymorphisms in genes previously related to SCA disease severity in an Angolan pediatric population. Methods. This study analyzed clinical and biological data collected from 192 Angolan children. Using NGS data, we classified the HBB haplotypes based on four previously described SNPs (rs3834466, rs28440105, rs10128556, and rs968857) and the genotype for the SNPs in HBG2 (rs7482144), BCL11A (rs4671393, rs11886868, rs1427407, rs7557939), HBS1L-MYB (rs66650371) and BGLT3 (rs7924684) genes. Results. The CAR haplotype was undoubtedly the most common HBB haplotype in our population. The HbF values and the ratio of gamma chains were statistically significant for almost all of the variants studied. We reported for the first time an association between rs7924684 in the BGLT3 gene and gamma chains ratio. Conclusions. The current findings emphasize the importance personalized medicine would have if applied to SCA patient care since some of the variants studied might predict the phenotype and the overall response to treatmentpt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationDelgadinho M, Ginete C, Santos B, Miranda A, Brito M. Genotypic diversity among Angolan children with sickle cell anemia. Int J Environ Res Public Health. 2021;18(10):5417.pt_PT
dc.identifier.doi10.3390/ijerph18105417pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.21/13372
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.relationProject FCT/Aga Khan (nº 330842553)pt_PT
dc.relationFCT_UIDB/05608/2020pt_PT
dc.relationFCT_UIDP/05608/2020pt_PT
dc.relation.publisherversionhttps://www.mdpi.com/1660-4601/18/10/5417pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectSickle cell anemiapt_PT
dc.subjectFetal hemoglobinpt_PT
dc.subjectHBB haplotypespt_PT
dc.subjectBCL11Apt_PT
dc.subjectBGLT3pt_PT
dc.subjectHBG2pt_PT
dc.subjectHBS1L-MYBpt_PT
dc.subjectNGSpt_PT
dc.subjectAngolapt_PT
dc.subjectProject FCT/Aga Khan (nº 330842553)pt_PT
dc.subjectFCT_UIDB/05608/2020pt_PT
dc.subjectFCT_UIDP/05608/2020pt_PT
dc.titleGenotypic diversity among Angolan children with sickle cell anemiapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue10pt_PT
oaire.citation.startPage5417pt_PT
oaire.citation.titleInternational Journal of Environmental Research and Public Healthpt_PT
oaire.citation.volume18pt_PT
person.familyNameNeves Delgadinho
person.familyNameHonrado Ginete
person.familyNameBrito
person.givenNameMariana Isabel
person.givenNameAna Catarina
person.givenNameMiguel
person.identifierCAJ-5082-2022
person.identifier.ciencia-id231E-02E3-D9A9
person.identifier.ciencia-id8715-F62E-1E0F
person.identifier.ciencia-id231F-F341-7E93
person.identifier.orcid0000-0003-0586-9154
person.identifier.orcid0000-0002-2334-782X
person.identifier.orcid0000-0001-6394-658X
person.identifier.ridA-7970-2016
person.identifier.scopus-author-id35224551000
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationca55aab6-9a58-4f79-ab79-20513414099f
relation.isAuthorOfPublicationdfb2fbba-17ff-42fb-905a-fcfc8f326e1c
relation.isAuthorOfPublication4252d8e0-800c-4d67-8b13-0b711d860669
relation.isAuthorOfPublication.latestForDiscovery4252d8e0-800c-4d67-8b13-0b711d860669

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