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Newborn screening of hemoglobinopathies in Bengo, Angola

2019-03Conference object Open access
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dc.contributor.authorTchonhi, Chissengo
dc.contributor.authorBorges, Eliana
dc.contributor.authorAmorim, António
dc.contributor.authorPrata, Maria João
dc.contributor.authorBrito, Miguel
dc.date.accessioned2019-03-22T16:37:08Z
dc.date.available2019-03-22T16:37:08Z
dc.date.issued2019-03
dc.description.abstractSickle cell anemia (SCA) is caused by the presence of the sickle cell allele-HBB*S, in homozygosity. In sub-Saharan Africa, HBB*S typically reaches high frequencies, especially in regions where malaria is endemic. Epidemiologic evidence indicates that the burden of SCA, which currently represents a dramatic public health concern in sub-Saharan Africa, will predictably increase in the future. In this sense, the determination of prevalence, as well as markers of disease severity, are necessary so that the Ministry of Health can develop correct programs to manage the disease. The aim of the study: The objective of this work was to screen by direct sequencing of the HBB gene in a sample of newborns from Bengo, Angola. Moreover, we aim to identify common haplotypes of SCA by Multiplex SNaPshot system.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationTchonhi C, Borges E, Amorim A, Prata MJ, Brito M. Newborn screening of hemoglobinopathies in Bengo, Angola. In: International Conference Erythropoiesis Control and Ineffective Erythropoiesis: from bench to bedside, Budapest (Hungary), March 15-17, 2019.pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.21/9758
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.relation.publisherversionhttp://www.esh.org/conference/international-conference-on-erythropoiesis-control-and-ineffective-erythropoiesis/pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectPublic healthpt_PT
dc.subjectSickle cell anemiapt_PT
dc.subjectInfantpt_PT
dc.subjectHemoglobinopathiespt_PT
dc.subjectAngolapt_PT
dc.subjectProvíncia do Bengopt_PT
dc.titleNewborn screening of hemoglobinopathies in Bengo, Angolapt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceBudapestept_PT
person.familyNameBrito
person.givenNameMiguel
person.identifier.ciencia-id231F-F341-7E93
person.identifier.orcid0000-0001-6394-658X
person.identifier.ridA-7970-2016
person.identifier.scopus-author-id35224551000
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isAuthorOfPublication4252d8e0-800c-4d67-8b13-0b711d860669
relation.isAuthorOfPublication.latestForDiscovery4252d8e0-800c-4d67-8b13-0b711d860669

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