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Haplotype distribution and genotypic diversity among Angolan children with sickle cell disease

2021-01Conference object Open access
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dc.contributor.authorDelgadinho, Mariana
dc.contributor.authorSantos, Brígida
dc.contributor.authorBrito, Miguel
dc.date.accessioned2021-03-15T16:36:20Z
dc.date.available2021-03-15T16:36:20Z
dc.date.issued2021-01
dc.descriptionFCT/Aga Khan (project no. 330842553).pt_PT
dc.descriptionFCT_UIDB/05608/2020pt_PT
dc.descriptionFCT_UIDP/05608/2020pt_PT
dc.description.abstractSickle cell disease (SCD) is an inherited blood disorder that affects over 300,000 newborns worldwide every year. Despite being a monogenic disease, SCD shows a remarkably high clinical heterogeneity, and analysis of the HBB gene cluster has revealed five distinct haplotypes: Senegal (SEN), Benin (BEN), Central African Republic (CAR), Cameroon (CAM), and Arab-Indian (ARAB). The aim of this study was to assess the frequency of HBB haplotypes, as well as to correlate other genetic predictors that could have an impact on SCD phenotype in an Angolan pediatric population.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationDelgadinho M, Santos B, Brito M. Haplotype distribution and genotypic diversity among Angolan children with sickle cell disease. In: Proceedings of the 24th Annual Meeting of the Portuguese Society of Human Genetics (SPGH – Sociedade Portuguesa de Genética Humana). Medicine. 2021;100(4):e23585. poster 28.pt_PT
dc.identifier.doi10.1097/MD.0000000000023585pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.21/13097
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherLippincott Williams & Wilkinspt_PT
dc.relationFCT/Aga Khan (project no. 330842553)pt_PT
dc.relationFCT_UIDB/05608/2020pt_PT
dc.relationFCT_UIDP/05608/2020pt_PT
dc.relation.publisherversionhttps://journals.lww.com/md-journal/Fulltext/2021/01290/Proceedings_of_the_24th_Annual_Meeting_of_the.11.aspxpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectBlood disorderpt_PT
dc.subjectSickle cell diseasept_PT
dc.subjectChildrenpt_PT
dc.subjectAngolapt_PT
dc.subjectFCT_Aga Khan (project no. 330842553)pt_PT
dc.subjectFCT_UIDB/05608/2020pt_PT
dc.subjectFCT_UIDP/05608/2020pt_PT
dc.titleHaplotype distribution and genotypic diversity among Angolan children with sickle cell diseasept_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.issue4pt_PT
oaire.citation.startPagee23585pt_PT
oaire.citation.titleMedicinept_PT
oaire.citation.volume100pt_PT
person.familyNameNeves Delgadinho
person.familyNameBrito
person.givenNameMariana Isabel
person.givenNameMiguel
person.identifierCAJ-5082-2022
person.identifier.ciencia-id231E-02E3-D9A9
person.identifier.ciencia-id231F-F341-7E93
person.identifier.orcid0000-0003-0586-9154
person.identifier.orcid0000-0001-6394-658X
person.identifier.ridA-7970-2016
person.identifier.scopus-author-id35224551000
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isAuthorOfPublicationca55aab6-9a58-4f79-ab79-20513414099f
relation.isAuthorOfPublication4252d8e0-800c-4d67-8b13-0b711d860669
relation.isAuthorOfPublication.latestForDiscovery4252d8e0-800c-4d67-8b13-0b711d860669

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