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Sickle cell disease: can genetic variability influence pregnancy outcomes?

2026-07Artigo científico Acesso aberto
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datacite.subject.sdg03:Saúde de Qualidade
dc.contributor.authorGinete, Catarina
dc.contributor.authorCruz, Carolina
dc.contributor.authorDelgadinho, Mariana
dc.contributor.authorMendes, Manuela
dc.contributor.authorSimão, Fernanda
dc.contributor.authorAlves, Ligia
dc.contributor.authorVasconcelos, Jocelyne
dc.contributor.authorBorralho, Paula
dc.contributor.authorBrito, Miguel
dc.date.accessioned2026-05-27T12:55:31Z
dc.date.available2026-05-27T12:55:31Z
dc.date.issued2026-07
dc.descriptionThis project was funded by H&TRC, IPL/IDI&CA2024/GenFalci_ESTeSL, Calouste Gulbenkian Foundation, and Camões – Instituto da Cooperação e da Língua I.P., and supported by FCT - Fundação para a Ciência e a Tecnologia, I.P. - project reference 2023.00426.BD and DOI identifier 10.54499/2023.00426.BD.
dc.description.abstractPregnancy in Sickle Cell Disease (SCD), a severe hereditary genetic condition, highly prevalent in Sub-Saharan African countries, is associated with increased risk of complications and severe outcomes in pregnancy, like intrauterine growth restriction, low birth weight, premature birth, miscarriage, stillbirth, pre-eclampsia, and maternal mortality. Several factors have been identified as associated with the heterogeneity of SCD phenotypes, namely the hemoglobin subunit beta (HBB) haplotype and −3.7 kb α-thalassemia deletion. Objective: This study aimed to identify pregnancy complications and severe outcomes, and their association with genetic variability in women with SCD. Methods: In a cohort of 162 pregnant women followed at Maternidade Lucrécia Paim, Luanda, Angola, we collected clinical, hematological, biochemical, and genetic data (Sickle Cell Disease genotype, HBB haplotype, and −3.7 kb α-thalassemia). Findings: The Central African Republic (CAR) haplotype was the most prevalent, being 87% of women homozygous. For the −3.7 kb α-gene deletion, 11.7% of women were homozygous, and 36.4% were heterozygous. In this cohort, CAR/CAR women had over 9 times higher odds of having a premature birth, and homozygous women for the −3.7 kb α-thalassemia had over four times higher odds of having a livebirth than the other genotypes. Over 50% of babies were born with low birth weight, and 52,7% were considered premature. Severe maternal complications were registered in 68% of current pregnancies. Conclusion: These findings highlight the high burden of adverse outcomes in SCD pregnancy and the need for individualized and closer healthcare, especially in low and middle-income countries.eng
dc.description.sponsorshipThis project was funded by H&TRC, IPL/IDI&CA2024/GenFalci_ESTeSL, Calouste Gulbenkian Foundation, and Camões – Instituto da Cooperação e da Língua I.P., and supported by FCT - Fundação para a Ciência e a Tecnologia, I.P. - project reference 2023.00426.BD and DOI identifier 10.54499/2023.00426.BD
dc.identifier.citationGinete C, Cruz C, Delgadinho M, Mendes M, Simão F, Brito M, et al. Sickle cell disease: can genetic variability influence pregnancy outcomes? Blood Cells Mol Dis. 2026;119:103011.
dc.identifier.doi10.1016/j.bcmd.2026.103011
dc.identifier.issn1079-9796
dc.identifier.urihttp://hdl.handle.net/10400.21/22904
dc.language.isoeng
dc.peerreviewedyes
dc.publisherElsevier BV
dc.relationIPL/IDI&CA2024/GenFalci_ESTeSL
dc.relationFCT_2023.00426.BD
dc.relation.hasversionhttps://www.sciencedirect.com/science/article/pii/S1079979626000343
dc.relation.ispartofBlood Cells, Molecules, and Diseases
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectSickle cell disease
dc.subjectPregnancy
dc.subjectHBB haplotype
dc.subject−3.7 kb α-thalassemia
dc.subjectAngola
dc.subjectLuanda
dc.subjectIPL/IDI&CA2024/GenFalci_ESTeSL
dc.subjectFCT_2023.00426.BD
dc.titleSickle cell disease: can genetic variability influence pregnancy outcomes?eng
dc.typejournal article
dspace.entity.typePublication
oaire.citation.startPage103011
oaire.citation.titleBlood Cells, Molecules and Diseases
oaire.citation.volume119
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameHonrado Ginete
person.familyNameNeves Delgadinho
person.familyNameBrito
person.givenNameAna Catarina
person.givenNameMariana Isabel
person.givenNameMiguel
person.identifierCAJ-5082-2022
person.identifier.ciencia-id8715-F62E-1E0F
person.identifier.ciencia-id231E-02E3-D9A9
person.identifier.ciencia-id231F-F341-7E93
person.identifier.orcid0000-0002-2334-782X
person.identifier.orcid0000-0003-0586-9154
person.identifier.orcid0000-0001-6394-658X
person.identifier.ridA-7970-2016
person.identifier.scopus-author-id35224551000
relation.isAuthorOfPublicationdfb2fbba-17ff-42fb-905a-fcfc8f326e1c
relation.isAuthorOfPublicationca55aab6-9a58-4f79-ab79-20513414099f
relation.isAuthorOfPublication4252d8e0-800c-4d67-8b13-0b711d860669
relation.isAuthorOfPublication.latestForDiscoverydfb2fbba-17ff-42fb-905a-fcfc8f326e1c

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