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Pregnancy and SCD: addressing the gaps in medical surveillance in low-and middle-income countries

2025-10Comunicação em conferência Acesso aberto
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datacite.subject.sdg03:Saúde de Qualidade
dc.contributor.authorGinete, Catarina
dc.contributor.authorBrito, Miguel
dc.contributor.authorMendes, Manuela
dc.contributor.authorSimão, Fernanda
dc.contributor.authorVasconcelos, Jocelyne
dc.date.accessioned2026-04-20T10:20:45Z
dc.date.available2026-04-20T10:20:45Z
dc.date.issued2025-10
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 Tecnologia, I.P. by project reference 2023.00426.BD and DOI identifier https://doi.org/10.54499/2023.00426.BD.
dc.description.abstractIntroduction: Sickle Cell Disease (SCD) is a severe hereditary genetic condition, and pregnancy in these patients may lead to the exacerbation of symptoms and severe complications, such as eclampsia, pre-eclampsia, stroke, perinatal and maternal death. This study aimed to identify pregnancy complications and their association with genetic variability in women with SCD at Maternidade Lucrecia Paim, Luanda, Angola. Methods: Pregnant SCD women followed at Maternidade Lucrecia Paim, Luanda, Angola, between June 2021 and March 2024, were invited to participate in the study. Sociodemographic data, information about previous manifestations of the disease, and pregnancies were collected. Pregnancy monitoring included hematological, biochemical, and genetic analysis (SCD genotype, HBB haplotype, and 3.7 kb deletion of the α-globin gene). Results: A total of 162 SCD patients were enrolled in this study, with ages ranging from 16 to 46. SS genotype was confirmed in 161 patients, and one patient presented with sickle beta-thalassemia. Moderate jaundice was identified in 15% and light jaundice in 59% of patients. Clinical history analysis shows that 91% of these patients have been hospitalized at least once, 81% of the time resulting from painful crisis episodes, and 79% received at least one transfusion. Overall, 18% of pregnancies resulted in stillbirth and 16% in spontaneous abortions. Regarding HBB haplotypes, 87% of women had the CAR/CAR haplotype, which is considered the most severe. These CAR/CAR patients presented lower RBC (p = 0.05), hemoglobin (p = 0.008), and HCT (p = 0.041), and higher LDH (p = 0.010). The perinatal survival rate was also inferior in these patients (64% vs. 82%). Also, the presence of the T allele in the polymorphism rs968857, in the region of the δ-globin gene (HBD), seems to be associated with a lower rate of miscarriages (p = 0.044) and the number of livebirths (p = 0.045). The presence of 3.7 alpha thalassemia deletion has been associated with better prognosis in SCD patients. In this cohort, 12% of women were homozygous for the deletion, and 36% were heterozygous. Homozygous patients presented lower WBC (p = 0.004), MCV (p = 0.013), MCH (p < 0.001), MCHC (p = 0.003), total and direct bilirubin (p < 0.001 and p = 0.012), and higher RBC (p < 0.001) and HCT (p = 0.004). Although not statistically significant (p = 0.072), homozygous individuals presented a higher rate of livebirths (85% vs. 63%) than other genotypes. Conclusion: The high rates of miscarriages and fetal death associated with SCD demonstrate the urgent need to invest in medical surveillance for these women, especially in countries where the prevalence of the disease is high and the resources are limited. The early identification of the most severe phenotypes will allow the implementation of preventive strategies to help reduce the risk of severe outcomes.eng
dc.identifier.citationGinete C, Brito M, Mendes M, Simão F, Vasconcelos J. Pregnancy and SCD: addressing the gaps in medical surveillance in low-and middle-income countries. In: 20th Annual Sickle Cell & Thalassaemia Conference, London (UK), October 1-4, 2025. British Journal of Haematology. 2025;207 Suppl 1:S20.
dc.identifier.urihttp://hdl.handle.net/10400.21/22805
dc.language.isoeng
dc.peerreviewedyes
dc.publisherWiley
dc.relationFCT_2023.00426.BD
dc.relationIPL/IDI&CA2024/GenFalci_ESTeSL
dc.relation.hasversionhttps://onlinelibrary.wiley.com/toc/13652141/2025/207/S1
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectSickle cell disease
dc.subjectPregnancy
dc.subjectAngola
dc.subjectLuanda
dc.subjectMaternidade Lucrecia Paim
dc.subjectIPL/IDI&CA2024/GenFalci_ESTeSL
dc.subjectFCT_2023.00426.BD
dc.titlePregnancy and SCD: addressing the gaps in medical surveillance in low-and middle-income countrieseng
dc.typeconference paper
dspace.entity.typePublication
oaire.citation.conferenceDate2025-10
oaire.citation.conferencePlaceLondres, Reino Unido
oaire.citation.issueSuppl 1
oaire.citation.startPageS20
oaire.citation.titleBritish Journal of Haematology
oaire.citation.volume207
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameHonrado Ginete
person.familyNameBrito
person.givenNameAna Catarina
person.givenNameMiguel
person.identifier.ciencia-id8715-F62E-1E0F
person.identifier.ciencia-id231F-F341-7E93
person.identifier.orcid0000-0002-2334-782X
person.identifier.orcid0000-0001-6394-658X
person.identifier.ridA-7970-2016
person.identifier.scopus-author-id35224551000
relation.isAuthorOfPublicationdfb2fbba-17ff-42fb-905a-fcfc8f326e1c
relation.isAuthorOfPublication4252d8e0-800c-4d67-8b13-0b711d860669
relation.isAuthorOfPublication.latestForDiscoverydfb2fbba-17ff-42fb-905a-fcfc8f326e1c

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