@article{e8f5635e0fa848009fcaea2c3feccc7f,
title = "Sickle cell trait in S{\~a}o Tom{\'e} e Pr{\'i}ncipe: a population-based prevalence study in women of reproductive age",
abstract = "Background: Sickle Cell Disorder is Africa{\textquoteright}s most prevalent genetic disease. Yet, it remains a neglected condition, with high mortality under-five, and a lack of population-based studies in the region. This is the first of its kind in S{\~a}o Tom{\'e} e Pr{\'i}ncipe, aiming to estimate the prevalence of sickle cell trait and other haemoglobin variants in women of reproductive age and its associated factors. Methods: We conducted a cluster survey in 35 neighbourhoods. Haemoglobin was assessed through point-of-care capillary electrophoresis or high-performance liquid chromatography, and sociodemographic data through questionnaires. The weighted prevalence of sickle cell trait (HbAS) and HbC carriers was estimated with a 95% confidence interval (95% CI). We calculated weighted prevalence ratios (95% CI) through robust Poisson regression for its association with age and individual and collective genetic heritage. Findings: The prevalence of sickle cell trait in women of reproductive age in S{\~a}o Tom{\'e} e Pr{\'i}ncipe (n = 376) was 13.45% (95% CI: 9.05-19.00). The prevalence of HbC carriers was 8.00% (95% CI: 4.71-12.00). Older age and speaking Forro or Angolar were positively associated with having sickle cell trait. Interpretation: The prevalence of sickle cell trait in S{\~a}o Tom{\'e} e Pr{\'i}ncipe ranks high in the West African region. The country should follow international guidelines, implementing newborn screening and comprehensive healthcare management.",
keywords = "Cluster sampling, Genetics, Haemoglobinopathies, Sickle cell disease, Sub-saharian Africa",
author = "Guilherme Queiroz and Celdidy Monteiro and Lic{\'i}nio Manco and Lu{\'i}s Relvas and Trovoada, {Maria de Jesus} and Andreia Leite and Celeste Bento",
note = "Funding Information: We thank Hidalgo Afonso and Gelson Vila Nova for the technical support in Regi{\~a}o Aut{\'o}noma do Pr{\'i}ncipe and S{\~a}o Tom{\'e} territory, respectively. We also thank Rita Aguiar and Vasco Pessoa Jorge for lending their home and car during the whole stay of GQ and CB in S{\~a}o Tom{\'e} e Pr{\'i}ncipe. For the support in the definition of the neighbourhoods as PSU we thank Id{\'a}lio Lu{\'i}s and NGouabi Tiny da Trindade from Instituto Nacional de Estat{\'i}stica. The initial support and conversations with Joabi Nascimento, from Instituto de Pesquisa Cl{\'i}nica Carlos Borborema, about population-based prevalence studies were also fundamental to developing our methodology. Finally, we thank the generosity and support of the administration of Hospital Dr. Ayres de Menezes, all the healthcare workers who helped us during fieldwork and the people of S{\~a}o Tom{\'e} e Pr{\'i}ncipe. Funding Information: CIAS-UC (FCT: UIDB/00283/2020), APPDH and Forum Haematologico. This work was funded by CIAS - supported by FCT - Foundation for Science and Technology, I.P., within the scope of the project UIDB/00283/2020CIAS-UC - who paid for the ARKRAY{\textregistered} Lab001 and reagents for all the laboratory work, the flight and travel expenses of CB, the flight to Pr{\'i}ncipe of GQ and publishing fees. APPDH paid for the flights of GQ to S{\~a}o Tom{\'e}. Forum Hematologico de Coimbra paid for the impression of forms and informed consent. Publisher Copyright: {\textcopyright} The Author(s) 2024.",
year = "2024",
month = dec,
doi = "10.1186/s12889-024-17761-1",
language = "English",
volume = "24",
journal = "BMC Public Health",
issn = "1471-2458",
publisher = "BioMed Central (BMC)",
number = "1",
}
