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Unusual β-globin haplotype distribution in newborns from Bengo, Angola

2019-08Artigo científico Acesso restrito
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dc.contributor.authorBorges, Eliana
dc.contributor.authorTchonhi, Chissengo
dc.contributor.authorCouto, Cátia S. B.
dc.contributor.authorGomes, Verónica
dc.contributor.authorAmorim, Antonio
dc.contributor.authorPrata, Maria João
dc.contributor.authorBrito, Miguel
dc.date.accessioned2019-08-27T10:17:35Z
dc.date.available2019-08-27T10:17:35Z
dc.date.issued2019-08
dc.descriptionCOMPETE 2020. POCI-01-0145-FEDER-007274 to i3S.pt_PT
dc.description.abstractMutations on the HBB gene are a common cause of hemoglobinopathies, including sickle cell anemia, a severe genetic condition that constitutes a major public health concern. The aim of this study was to determine the prevalence of sickle cell anemia and β-globin haplotype distribution in newborns from the Bengo region. The first two exons of β-globin gene were sequenced, and the variability at the single nucleotide polymorphism (SNP) defining the Hb S (HBB: c.20A>T) haplotypes, was analyzed by a SNaPshot® Multiplex system. About 3.3% of the children were homozygous for Hb S, and 82.2% had as background the Bantu/Central African Republic (BAN/CAR) haplotype, 11.2% the Benin (BEN) and 6.6% the Senegal (SEN). The estimate of Hb S reached the very high value of 0.1476 ± 0.0133, with the aggravating factor of 82.2% of the sickle alleles being anchored in the BAN/CAR haplotype, associated with the more severe sickle cell anemia phenotypes. Also, the high prevalence of the SEN haplotype was not expected, having therapeutic consequences since is associated with more severe outcomes. In addition, two β-thalassemia (β-thal) variants were also detected, IVS I-110 (G>A) (HBB: c.93-21G>A) and codon 39 (C>T) (HBB: c.118C>T), together totaling a frequency of 1.3%. Some of the newborns with these mutations were compound heterozygotes for Hb S, likely carrying genotypes consistent with sickle cell disease. As a whole, infants molecularly diagnosed with sickle cell disease accounted for 4.5% of newborns from Bengo, Angola, a figure that per se, highlights the urgent need of implementing policies warranting surveillance of these children, in parallel with community education in the region.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationBorges E, Tchonhi C, Couto CS, Gomes V, Amorim A, Brito M, et al. Unusual β-globin haplotype distribution in newborns from Bengo, Angola. Hemoglobin. 2019;43(3):149-54.pt_PT
dc.identifier.doi10.1080/03630269.2019.1647230pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.21/10423
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherTaylor & Francispt_PT
dc.relationCOMPETE 2020pt_PT
dc.relationPOCI-01-0145-FEDER-007274 to i3Spt_PT
dc.relation.publisherversionhttps://www.tandfonline.com/doi/full/10.1080/03630269.2019.1647230pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectb-globin genept_PT
dc.subjectNewborn screeningpt_PT
dc.subjectSickle cell disorderspt_PT
dc.subjectAngolapt_PT
dc.subjectProvíncia do Bengopt_PT
dc.subjectCOMPETE 2020pt_PT
dc.subjectPOCI-01-0145-FEDER-007274 to i3Spt_PT
dc.titleUnusual β-globin haplotype distribution in newborns from Bengo, Angolapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage6pt_PT
oaire.citation.endPage154pt_PT
oaire.citation.issue3pt_PT
oaire.citation.startPage1pt_PT
oaire.citation.startPage149pt_PT
oaire.citation.titleHemoglobinpt_PT
oaire.citation.volume43pt_PT
person.familyNameGomes
person.familyNameAmorim
person.familyNamePrata
person.familyNameBrito
person.givenNameVerónica
person.givenNameAntonio
person.givenNameMaria João
person.givenNameMiguel
person.identifier39765
person.identifier.ciencia-id3211-8DF2-D3C1
person.identifier.ciencia-idE910-B2FE-BBAC
person.identifier.ciencia-id1816-19C4-985E
person.identifier.ciencia-id231F-F341-7E93
person.identifier.orcid0000-0003-2815-6376
person.identifier.orcid0000-0002-7518-6247
person.identifier.orcid0000-0002-0583-1028
person.identifier.orcid0000-0001-6394-658X
person.identifier.ridA-7938-2008
person.identifier.ridA-6945-2010
person.identifier.ridA-7970-2016
person.identifier.scopus-author-id24472623400
person.identifier.scopus-author-id57205507230
person.identifier.scopus-author-id7005272867
person.identifier.scopus-author-id35224551000
rcaap.rightsrestrictedAccesspt_PT
rcaap.typearticlept_PT
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relation.isAuthorOfPublicationb2717273-9c1c-4896-9a4a-86c5ab56a0bd
relation.isAuthorOfPublicationcba35c38-e507-4762-bc01-9aa912e87208
relation.isAuthorOfPublication4252d8e0-800c-4d67-8b13-0b711d860669
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