Browsing by Author "Bento, Celeste"
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- Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus ConferencePublication . Lobitz, Stephan; Telfer, Paul; Cela, Elena; Allaf, Bichr; Angastiniotis, Michael; Backman Johansson, Carolina; Badens, Catherine; Bento, Celeste; Bouva, Marelle J.; Canatan, Duran; Charlton, Matthew; Coppinger, Cathy; Daniel, Yvonne; de Montalembert, Marianne; Ducoroy, Patrick; Dulin, Elena; Fingerhut, Ralph; Frömmel, Claudia; García-Morin, Marina; Gulbis, Béatrice; Holtkamp, Ute; Inusa, Baba; James, John; Kleanthous, Marina; Klein, Jeannette; Kunz, Joachim B.; Langabeer, Lisa; Lapouméroulie, Claudine; Marcao, Ana; Marín Soria, José L.; McMahon, Corrina; Ohene-Frempong, Kwaku; Périni, Jean-Marc; Piel, Frédéric B.; Russo, Giovanna; Sainati, Laura; Schmugge, Markus; Streetly, Allison; Tshilolo, Leon; Turner, Charles; Venturelli, Donatella; Vilarinho, Laura; Yahyaoui, Rachel; Elion, Jacques; Colombatti, Raffaella; with the endorsement of EuroBloodNet, the European Reference Network in Rare Haematological DiseasesSickle Cell Disease (SCD) is an increasing global health problem and presents significant challenges to European health care systems. Newborn screening (NBS) for SCD enables early initiation of preventive measures and has contributed to a reduction in childhood mortality from SCD. Policies and methodologies for NBS vary in different countries, and this might have consequences for the quality of care and clinical outcomes for SCD across Europe. A two-day Pan-European consensus conference was held in Berlin in April 2017 in order to appraise the current status of NBS for SCD and to develop consensus-based statements on indications and methodology for NBS for SCD in Europe. More than 50 SCD experts from 13 European countries participated in the conference. This paper aims to summarise the discussions and present consensus recommendations which can be used to support the development of NBS programmes in European countries where they do not yet exist, and to review existing programmes.
- Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese PopulationPublication . Rodrigues, Diogo; Marcão, Ana; Lopes, Lurdes; Ventura, Ana; Faria, Teresa; Ferrão, Anabela; Gonçalves, Carolina; Kjöllerström, Paula; Castro, Ana; Fraga, Sofia; Almeida, Marta; Maia, Tabita; Gomes, João; Lachado, Ana; Guerra, Isabel; Ferreira, Fátima; Trigo, Fernanda; Bento, Celeste; Vilarinho, LauraThe Portuguese Newborn Screening Program currently includes 28 pathologies: congenital hypothyroidism, cystic fibrosis, 24 inborn errors of metabolism, sickle cell disease and spinal muscular atrophy. This pilot study for sickle cell disease newborn screening, including 188,217 samples, was performed between May 2021 and December 2023, with phase I, including 24,130 newborns, in the Lisbon and Setubal districts and phase II, including 164,087 newborns, in the whole country. DBS samples were analyzed through capillary electrophoresis. In phase I, a high birth incidence of sickle cell disease was found (1:928 NBs), resulting from the identification of 24 HbSS and 2 HbSC patients. This birth incidence decreased but remained significant when the pilot study for sickle cell disease newborn screening was expanded to a national level, with the identification of 67 sickle cell disease patients (59 HbSS and 8 HbSC), revealing a birth incidence of 1:2449 NBs. These data suggest that this condition is becoming increasingly relevant in Portugal, thus reflecting a general European trend, where sickle cell disease is already recognized as a public health problem. Therefore, it highlights the importance of its integration into the Portuguese National Newborn Screening Program panel in January 2024, thus allowing the early identification and clinical follow-up of these patients.
- Sickle cell trait in São Tomé e Príncipe: a population-based prevalence study in women of reproductive agePublication . Queiroz, Guilherme; Monteiro, Celdidy; Manco, Licínio; Relvas, Luís; Trovoada, Maria de Jesus; Leite, Andreia; Bento, CelesteBackground Sickle Cell Disorder is Africa’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 São Tomé e Príncipe, 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 São Tomé e Príncipe (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 São Tomé e Príncipe ranks high in the West African region. The country should follow international guidelines, implementing newborn screening and comprehensive healthcare management.