{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T03:25:17Z","timestamp":1792725917063,"version":"4.5.0"},"reference-count":48,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,5,29]],"date-time":"2025-05-29T00:00:00Z","timestamp":1748476800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>Sickle cell disease (SCD) is a major contributor to morbidity and mortality in sub-Saharan Africa, and early detection through neonatal screening can improve outcomes. In Senegal, systematic screening is not yet implemented. This study describes two cohorts of children diagnosed with SCD: those identified through neonatal screening and those diagnosed clinically after presenting symptoms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This retrospective study involved two cohorts of children diagnosed with SCD in St. Louis, Senegal, between 2010 and 2020\u2014one through neonatal screening (A) and the other clinically (B). Epidemiological, clinical, and management data were analyzed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Cohort A included 17,083 screened infants (74% screening rate), with 40 diagnosed at a mean age of 70.48 days, showing low complication rates and requiring less intensive treatment. Cohort B, with 39 clinically diagnosed children, had a mean diagnosis age of 21.9 months, with higher rates of hospitalizations, transfusions, and acute anemia. Vaccination and antibiotic prophylaxis were high in both cohorts.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>Neonatal screening enables early diagnosis, reducing complications and enabling timely interventions, while children diagnosed after symptoms face more severe disease. Early genetic counseling and addressing consanguinity are key for better outcomes. Challenges such as limited funding, equipment, and trained personnel must be addressed for broader implementation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Neonatal screening aligns with public health goals by reducing morbidity and mortality, and the long-term economic burden on families and healthcare systems. It is particularly relevant in the context of increasing global migration patterns, underscoring the need for such programs worldwide.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2025.1578570","type":"journal-article","created":{"date-parts":[[2025,5,29]],"date-time":"2025-05-29T05:24:47Z","timestamp":1748496287000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":16,"title":["Findings supporting neonatal screening for sickle cell disease: an observational study in Senegal"],"prefix":"10.3389","volume":"13","author":[{"given":"Lucie","family":"Petigas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ndiogou","family":"Seck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Doupa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ibrahima","family":"Diagne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Roth-Kleiner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2025,5,29]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1561","DOI":"10.1056\/NEJMra1510865","article-title":"Sickle cell disease","volume":"376","author":"Piel","year":"2017","journal-title":"N Engl J Med"},{"key":"B2","doi-asserted-by":"publisher","first-page":"20","DOI":"10.3390\/ijns5020020","article-title":"Sickle cell disease\u2014genetics, pathophysiology, clinical presentation and treatment","volume":"5","author":"Inusa","year":"2019","journal-title":"Int J Neonatal Screen"},{"key":"B3","volume-title":"La dr\u00e9panocytose de l'enfant et l'adolescent","author":"de Montalembert","year":"2020"},{"key":"B4","article-title":"Guide de Prise en Charge: La dr\u00e9panocytose en Afrique","author":"Diagne","year":"2018"},{"key":"B5","doi-asserted-by":"publisher","first-page":"e534","DOI":"10.1016\/S2352-3026(20)30143-5","article-title":"Implementing newborn screening for sickle cell disease as part of immunisation programmes in Nigeria: a feasibility study","volume":"7","author":"Nnodu","year":"2020","journal-title":"Lancet Haematol"},{"key":"B6","article-title":"Sickle cell disease","year":"2023"},{"key":"B7","doi-asserted-by":"publisher","first-page":"e744","DOI":"10.1016\/S2352-3026(21)00191-5","article-title":"Sickle cell disease in sub-Saharan Africa: transferable strategies for prevention and care","volume":"8","author":"Esoh","year":"2021","journal-title":"Lancet Haematol"},{"key":"B8","doi-asserted-by":"publisher","first-page":"18010","DOI":"10.1038\/nrdp.2018.10","article-title":"Sickle cell disease","volume":"4","author":"Kato","year":"2018","journal-title":"Nat Rev Dis Primers"},{"key":"B9","doi-asserted-by":"publisher","first-page":"5538","DOI":"10.3390\/jcm12175538","article-title":"Systematic literature review shows gaps in data on global prevalence and birth prevalence of sickle cell disease and sickle cell trait: call for action to scale up and harmonize data collection","volume":"12","author":"Colombatti","year":"2023","journal-title":"J Clin Med"},{"key":"B10","doi-asserted-by":"publisher","first-page":"70","DOI":"10.19044\/esj.2021.v17n34p70","article-title":"Les syndromes dr\u00e9panocytaires majeurs chez l\u2019enfant et l\u2019adolescent: \u00e9tude de la cohorte du centre hospitalier r\u00e9gional de saint-louis (s\u00e9n\u00e9gal)","volume":"17","author":"Seck","year":"2021","journal-title":"Eur Sci J"},{"key":"B11","doi-asserted-by":"publisher","first-page":"E422","DOI":"10.1503\/cmaj.171154","article-title":"Consolidated principles for screening based on a systematic review and consensus process","volume":"190","author":"Dobrow","year":"2018","journal-title":"CMAJ"},{"key":"B12","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1016\/j.immbio.2005.11.002","article-title":"\u00c9lectrophor\u00e8se capillaire et h\u00e9moglobinopathies","volume":"21","author":"Cotton","year":"2006","journal-title":"Immuno-Analyse Biol Sp\u00e9cialis\u00e9e"},{"key":"B13","doi-asserted-by":"publisher","first-page":"648","DOI":"10.1111\/bjh.15600","article-title":"Newborn screening for sickle cell disease in Europe: recommendations from a pan-European consensus conference","volume":"183","author":"Lobitz","year":"2018","journal-title":"Br J Haematol"},{"key":"B14","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/j.cca.2019.10.025","article-title":"Emerging point-of-care technologies for sickle cell disease diagnostics","volume":"501","author":"Ilyas","year":"2020","journal-title":"Clin Chim Acta"},{"key":"B15","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1111\/bjh.17678","article-title":"Saving lives through early diagnosis: the promise and role of point of care testing for sickle cell disease","volume":"196","author":"Dexter","year":"2022","journal-title":"Br J Haematol"},{"key":"B16","first-page":"1155","article-title":"Incidence of sickle cell trait\u2013United States, 2010","volume":"63","author":"Ojodu","year":"2014","journal-title":"MMWR Morb Mortal Wkly Rep"},{"key":"B17","doi-asserted-by":"publisher","first-page":"69","DOI":"10.3390\/ijns10040069","article-title":"Newborn screening for sickle cell disease in Catalonia between 2015 and 2022\u2014epidemiology and impact on clinical events","volume":"10","author":"Gonz\u00e1lez de Aledo-Castillo","year":"2024","journal-title":"Int J Neonatal Screen"},{"key":"B18","doi-asserted-by":"publisher","first-page":"6187","DOI":"10.1182\/bloodadvances.2022007698","article-title":"The consortium on newborn screening in Africa for sickle cell disease: study rationale and methodology","volume":"6","author":"Green","year":"2022","journal-title":"Blood Adv"},{"key":"B19","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1186\/s12913-016-1572-6","article-title":"Newborn screening and prophylactic interventions for sickle cell disease in 47 countries in sub-Saharan Africa: a cost-effectiveness analysis","volume":"16","author":"Kuznik","year":"2016","journal-title":"BMC Health Serv Res"},{"key":"B20","doi-asserted-by":"publisher","first-page":"e6161270","DOI":"10.1155\/2018\/6161270","article-title":"Burden of sickle cell disease in Ghana: the Korle-Bu experience","volume":"2018","author":"Asare","year":"2018","journal-title":"Adv Hematol"},{"key":"B21","doi-asserted-by":"publisher","first-page":"S398","DOI":"10.1016\/j.amepre.2011.09.013","article-title":"Sickle cell disease in Africa: a neglected cause of early childhood mortality","volume":"41","author":"Grosse","year":"2011","journal-title":"Am J Prev Med"},{"key":"B22","volume-title":"S\u00e9n\u00e9gal: Inauguration du CERPAD de Saint-Louis","year":"2015"},{"key":"B23","volume-title":"Dr\u00e9panocytose: Des Avanc\u00e9es sur le D\u00e9pistage Pr\u00e9coce au S\u00e9n\u00e9gal","year":"2018"},{"key":"B24","doi-asserted-by":"publisher","first-page":"1","DOI":"10.4236\/wjv.2021.111001","article-title":"Impact of COVID-19 on routine immunization: a cross-sectional study in Senegal","volume":"11","author":"Sow","year":"2021","journal-title":"World J Vaccines"},{"key":"B25","doi-asserted-by":"publisher","first-page":"38","DOI":"10.3390\/ijns10020038","article-title":"Current status of newborn bloodspot screening worldwide 2024: a comprehensive review of recent activities (2020\u20132023)","volume":"10","author":"Therrell","year":"2024","journal-title":"Int J Neonatal Screen"},{"key":"B26","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/S1773-035X(16)30131-9","article-title":"D\u00e9pistage n\u00e9onatal de la dr\u00e9panocytose","volume":"2016","author":"Bichr","year":"2016","journal-title":"Revue Francophone des Laboratoires"},{"key":"B27","doi-asserted-by":"publisher","first-page":"e687","DOI":"10.1016\/S2352-3026(23)00182-5","article-title":"Sickle cell disease landscape and challenges in the EU: the ERN-EuroBloodNet perspective","volume":"10","author":"Ma\u00f1\u00fa Pereira","year":"2023","journal-title":"Lancet Haematol"},{"key":"B28","volume-title":"L\u00e9talit\u00e9 des Syndromes Dr\u00e9panocytaires Majeurs Dans L\u2019enfance et L\u2019adolescence au S\u00e9n\u00e9gal: \u00c9tude de la Cohorte du Centre Hospitalier National D\u2019Enfants Albert-Royer de Dakar de 1991 \u00e0 2010 [th\u00e8se]","author":"Salle-Paye","year":"2015"},{"key":"B29","doi-asserted-by":"publisher","first-page":"e723","DOI":"10.1016\/S2352-3026(21)00216-7","article-title":"Child mortality from sickle cell disease in Nigeria: a model-estimated, population-level analysis of data from the 2018 demographic and health survey","volume":"8","author":"Nnodu","year":"2021","journal-title":"Lancet Haematol"},{"key":"B30","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1186\/s13104-025-07150-1","article-title":"Hemoglobin phenotypes of children attending pediatric clinics in Lom\u00e9, Togo, 2022","volume":"18","author":"Konu","year":"2025","journal-title":"BMC Res Notes"},{"key":"B31","doi-asserted-by":"publisher","first-page":"26","DOI":"10.3389\/fgene.2014.00026","article-title":"Genomic architecture of sickle cell disease in West African children","volume":"5","author":"Quinlan","year":"2014","journal-title":"Front Genet"},{"key":"B32","doi-asserted-by":"publisher","first-page":"140","DOI":"10.3389\/fmolb.2019.00140","article-title":"Gender-related differences in sickle cell disease in a pediatric cohort: a single-center retrospective study","volume":"6","author":"Ceglie","year":"2019","journal-title":"Front Mol Biosci"},{"key":"B33","doi-asserted-by":"publisher","first-page":"1639","DOI":"10.1056\/NEJM199406093302303","article-title":"Mortality in sickle cell disease. Life expectancy and risk factors for early death","volume":"330","author":"Platt","year":"1994","journal-title":"N Engl J Med"},{"key":"B34","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1016\/0277-9536(83)90234-4","article-title":"Sex differences in human mortality: the role of genetic factors","volume":"17","author":"Waldron","year":"1983","journal-title":"Soc Sci Med"},{"key":"B35","doi-asserted-by":"publisher","first-page":"e014179","DOI":"10.1136\/bmjopen-2016-014179","article-title":"Gender differences in infant survival: a secondary data analysis in rural North India","volume":"7","author":"Chowdhury","year":"2017","journal-title":"BMJ Open"},{"key":"B36","doi-asserted-by":"publisher","first-page":"2528","DOI":"10.3390\/jcm13092528","article-title":"Unraveling the complexity of vaso-occlusive crises in sickle cell disease: insights from a resource-limited setting","volume":"13","author":"Kaponda","year":"2024","journal-title":"J Clin Med"},{"key":"B37","doi-asserted-by":"publisher","first-page":"3543","DOI":"10.1007\/s12325-023-02545-7","article-title":"Economic and clinical burden of managing sickle cell disease with recurrent vaso-occlusive crises in the United States","volume":"40","author":"Udeze","year":"2023","journal-title":"Adv Ther"},{"key":"B38","first-page":"2","article-title":"Screening of newborn with sickle cell disease in the view of resource-limited setting","volume-title":"Current Practices in Sickle Cell Disease","author":"Mashingaidze Mano","year":"2020"},{"key":"B39","doi-asserted-by":"publisher","first-page":"250","DOI":"10.1186\/s13643-020-01504-5","article-title":"Screening for sickle cell disease in newborns: a systematic review","volume":"9","author":"Runkel","year":"2020","journal-title":"Syst Rev"},{"key":"B40","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1002\/jha2.926","article-title":"Positive impacts of universal newborn screening on the outcome of children with sickle cell disease in the province of Quebec: a retrospective cohort study","volume":"5","author":"Kazadi","year":"2024","journal-title":"EJHaem"},{"key":"B41","doi-asserted-by":"publisher","first-page":"e2024066842","DOI":"10.1542\/peds.2024-066842","article-title":"Health supervision for children and adolescents with sickle cell disease: clinical report","volume":"154","author":"Yates","year":"2024","journal-title":"Pediatrics"},{"key":"B42","doi-asserted-by":"publisher","first-page":"937","DOI":"10.1007\/s00277-024-06180-2","article-title":"Use of hydroxyurea in French-speaking sub-Saharan Africa","volume":"104","author":"Arlet","year":"2025","journal-title":"Ann Hematol"},{"key":"B43","first-page":"326","article-title":"Dr\u00e9panocytose chez l\u2019enfant. Profils clinique et \u00e9volutif \u00e0 propos de 138 cas suivis au service de p\u00e9diatrie de l\u2019H\u00f4pital abass ndao de Dakar","volume":"63","author":"Boiro","year":"2016","journal-title":"Med Afr Noire (En Ligne)"},{"key":"B44","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1186\/s43042-024-00490-w","article-title":"Consanguinity, complex diseases and congenital disabilities in the Souss population (Southern Morocco): a cross-sectional survey","volume":"25","author":"Dahbi","year":"2024","journal-title":"Egypt J Med Hum Genet"},{"key":"B45","doi-asserted-by":"publisher","first-page":"e057623","DOI":"10.1136\/bmjopen-2021-057623","article-title":"Enablers and barriers to newborn screening for sickle cell disease in Africa: results from a qualitative study involving programmes in six countries","volume":"12","author":"Archer","year":"2022","journal-title":"BMJ Open"},{"key":"B46","doi-asserted-by":"publisher","first-page":"872","DOI":"10.1186\/s12889-020-09003-x","article-title":"Women\u2019s autonomy in health decision-making and its effect on access to family planning services in Senegal in 2017: a propensity score analysis","volume":"20","author":"Sougou","year":"2020","journal-title":"BMC Public Health"},{"key":"B47","doi-asserted-by":"publisher","first-page":"180","DOI":"10.3166\/rmp-2022-0152","article-title":"Diagnostic n\u00e9onatal et prise en charge pr\u00e9coce de la dr\u00e9panocytose \u00e0 Saint-Louis (S\u00e9n\u00e9gal)\u202f: bilan des quatre premi\u00e8res ann\u00e9es d\u2019activit\u00e9 du Centre de recherche et de prise en charge ambulatoire de la dr\u00e9panocytose (CERPAD) de l\u2019universit\u00e9 Gaston-Berger de Saint-Louis","volume":"14","author":"Seck","year":"2022","journal-title":"P\u00e9rinatalit\u00e9"},{"key":"B48","article-title":"La dr\u00e9panocytose chez l'enfant au service de p\u00e9diatrie \u00e0 l'H\u00f4pital Al Farabi Oujda. Th\u00e8se m\u00e9decine universit\u00e9 Sidi Mohammed Ben Abdelah de F\u00e9s, n\u00b0 083\/13 (2013)","author":"Abderrahim","year":""}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2025.1578570\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,29]],"date-time":"2025-05-29T05:24:49Z","timestamp":1748496289000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2025.1578570\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,29]]},"references-count":48,"alternative-id":["10.3389\/fped.2025.1578570"],"URL":"https:\/\/doi.org\/10.3389\/fped.2025.1578570","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,29]]},"article-number":"1578570"}}