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Newborn screening for sickle cell disease in Angola: implementation challenges and emerging data on hemoglobinopathy prevalence

2026-05Artigo científico Acesso aberto
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datacite.subject.sdg03:Saúde de Qualidade
dc.contributor.authorBrito, Miguel
dc.contributor.authorGinete, Catarina
dc.contributor.authorJacinto, Mariana
dc.contributor.authorMendes, Manuela
dc.contributor.authorSoares, Hailton
dc.contributor.authorAfonso, Roberto
dc.contributor.authorSiatembo, Adriano
dc.contributor.authorVasconcelos, Jocelyne
dc.contributor.authorInusa, Baba
dc.date.accessioned2026-03-11T12:15:13Z
dc.date.available2026-03-11T12:15:13Z
dc.date.issued2026-05
dc.descriptionThe present project has the support of ARISE project “African Research and Innovative initiative for Sickle cell Education: Improving Research Capacity for Service Improvement” project (EU Horizon 2020 Marie Skłodowska-Curie grant agreement No 824021) by supporting the secondments of Angolan Laboratory technicians in Lisbon (Portugal) to perform the IEF and genetic analysis and be trained. This project was further supported by Revvity and from IPL/IDI&CA2024/GenFalci_ESTeSL.
dc.description.abstractSickle Cell Disease (SCD) is an autosomal recessive disorder with a substantial global burden. Despite its particularly high incidence in sub-Saharan Africa, early diagnosis remains limited in many countries. The objective of this study was to implement a newborn screening programme for SCD in one of the largest maternity hospitals in Angola and to support the subsequent pediatric follow-up of the affected children. Between June 2023 and December 2024, all children born in or attending the main hospital for vaccination were screened after parental or guardian consent. Blood was collected by heel-prick onto filter paper, and haemoglobin electrophoresis was performed by isoelectric focusing. Samples identified as HbSS were confirmed by PCR-RFLP, and atypical electrophoretic patterns were further analysed by DNA sequencing. In a total of 13,256 samples analysed, the prevalence of HbSS was 1.38% (n = 183), and 20.31% (n = 2692) were HbAS. Other variants identified (n = 44) included HbE, HbC, and α-globin gene alterations. Of the infants diagnosed with SCD, 106 (58%) families were successfully contacted, but only 76 (42%) children initiated regular medical follow-up and prophylactic treatment (penicillin, multivitamins, and vaccinations. 30 families (28%) declined treatment, and just one declined follow-up. These findings confirm the high prevalence of SCD in Angola and demonstrate the capacity of newborn screening programmes in reducing early morbidity and mortality. However, the substantial proportion of families refusing follow-up highlights the need for strengthened community health education to improve understanding of SCD.eng
dc.identifier.citationBrito M, Ginete C, Jacinto M, Mendes M, Soares H, Afonso R, et al. Newborn screening for sickle cell disease in Angola: implementation challenges and emerging data on hemoglobinopathy prevalence. Blood Cells Mol Dis. 2026;118:102988.
dc.identifier.doi10.1016/j.bcmd.2026.102988
dc.identifier.issn1079-9796
dc.identifier.urihttp://hdl.handle.net/10400.21/22713
dc.language.isoeng
dc.peerreviewedyes
dc.publisherElsevier BV
dc.relationIPL/IDI&CA2024/GenFalci_ESTeSL
dc.relationARISE project “African Research and Innovative initiative for Sickle cell Education: Improving Research Capacity for Service Improvement” project (EU Horizon 2020 Marie Skłodowska-Curie grant agreement No 824021)
dc.relation.hasversionhttps://www.sciencedirect.com/science/article/pii/S1079979626000112
dc.relation.ispartofBlood Cells, Molecules, and Diseases
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectSickle cell disease
dc.subjectNewborn screening
dc.subjectEpidemiology
dc.subjectHemoglobinopathy
dc.subjectAngola
dc.subjectIPL/IDI&CA2024/GenFalci_ESTeSL
dc.titleNewborn screening for sickle cell disease in Angola: implementation challenges and emerging data on hemoglobinopathy prevalenceeng
dc.typejournal article
dspace.entity.typePublication
oaire.citation.startPage102988
oaire.citation.titleBlood Cells, Molecules and Diseases
oaire.citation.volume118
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameBrito
person.familyNameHonrado Ginete
person.givenNameMiguel
person.givenNameAna Catarina
person.identifier.ciencia-id231F-F341-7E93
person.identifier.ciencia-id8715-F62E-1E0F
person.identifier.orcid0000-0001-6394-658X
person.identifier.orcid0000-0002-2334-782X
person.identifier.ridA-7970-2016
person.identifier.scopus-author-id35224551000
relation.isAuthorOfPublication4252d8e0-800c-4d67-8b13-0b711d860669
relation.isAuthorOfPublicationdfb2fbba-17ff-42fb-905a-fcfc8f326e1c
relation.isAuthorOfPublication.latestForDiscovery4252d8e0-800c-4d67-8b13-0b711d860669

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