{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T00:55:51Z","timestamp":1774572951186,"version":"3.50.1"},"reference-count":53,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2024,10,3]],"date-time":"2024-10-03T00:00:00Z","timestamp":1727913600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>In 2015, Catalonia introduced sickle cell disease (SCD) screening in its newborn screening (NBS) program along with standard-of-care treatments like penicillin, hydroxyurea, and anti-pneumococcal vaccination. Few studies have assessed the clinical impact of introducing NBS programs on SCD patients. We analyzed the incidence of SCD and related hemoglobinopathies in Catalonia and the change in clinical events occurring after introducing NBS. Screening 506,996 newborns from 2015 to 2022, we conducted a retrospective multicenter study including 100 screened (SG) and 95 unscreened (UG) SCD patients and analyzed SCD-related clinical events over the first six years of life. We diagnosed 160 cases of SCD, with an incidence of 1 in 3169 newborns. The SG had a significantly lower median age at diagnosis (0.1 y vs. 1.68 y, p &lt; 0.0001), and initiated penicillin prophylaxis (0.12 y vs. 1.86 y, p &lt; 0.0001) and hydroxyurea treatment earlier (1.42 y vs. 4.5 y, p &lt; 0.0001). The SG experienced fewer median SCD-related clinical events (vaso-occlusive crisis, acute chest syndrome, infections of probable bacterial origin, acute anemia requiring transfusion, acute splenic sequestration, and pathological transcranial Doppler echography) per year of follow-up (0.19 vs. 0.77, p &lt; 0.0001), a reduced number of annual emergency department visits (0.37 vs. 0.76, p &lt; 0.0001), and fewer hospitalizations (0.33 vs. 0.72, p &lt; 0.0001). SCD screening in Catalonia\u2019s NBS program has effectively reduced morbidity and improved affected children\u2019s quality of life.<\/jats:p>","DOI":"10.3390\/ijns10040069","type":"journal-article","created":{"date-parts":[[2024,10,4]],"date-time":"2024-10-04T03:26:36Z","timestamp":1728012396000},"page":"69","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022\u2014Epidemiology and Impact on Clinical Events"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7622-417X","authenticated-orcid":false,"given":"Jos\u00e9 Manuel","family":"Gonz\u00e1lez de Aledo-Castillo","sequence":"first","affiliation":[{"name":"Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Cl\u00ednic de Barcelona, 08028 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6069-7370","authenticated-orcid":false,"given":"Ana","family":"Argudo-Ram\u00edrez","sequence":"additional","affiliation":[{"name":"Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Cl\u00ednic de Barcelona, 08028 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Beneitez-Pastor","sequence":"additional","affiliation":[{"name":"Hematology Department, Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4865-0160","authenticated-orcid":false,"given":"Anna","family":"Collado-Gimbert","sequence":"additional","affiliation":[{"name":"Pediatric Oncology and Hematology Department, Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco","family":"Almaz\u00e1n Castro","sequence":"additional","affiliation":[{"name":"Pediatric Hematology Unit, Hospital Germans Trias i Pujol, 08916 Badalona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00edlvia","family":"Roig-Bosch","sequence":"additional","affiliation":[{"name":"Pediatric Department, Hospital Santa Caterina, Institut d\u2019Assist\u00e8ncia Sanit\u00e0ria, 17190 Salt, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Andr\u00e9s-Mas\u00f3","sequence":"additional","affiliation":[{"name":"Pediatric Department, Hospital Santa Caterina, Institut d\u2019Assist\u00e8ncia Sanit\u00e0ria, 17190 Salt, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0155-7922","authenticated-orcid":false,"given":"Anna","family":"Ruiz-Llobet","sequence":"additional","affiliation":[{"name":"Pediatric Oncology and Hematology Department, Hospital Sant Joan de D\u00e9u, 08950 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgina","family":"Pedrals-Portabella","sequence":"additional","affiliation":[{"name":"Pediatric Oncology and Hematology Department, Hospital Sant Joan de D\u00e9u, 08950 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Medina-Santamaria","sequence":"additional","affiliation":[{"name":"Pediatric Hematology Unit, Hospital Universitari Sant Joan de Reus, 43204 Reus, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gemma","family":"Nadal-Rey","sequence":"additional","affiliation":[{"name":"Pediatric Department, Hospital Universitari Arnau de Vilanova, 25198 Lleida, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Espigares-Salvia","sequence":"additional","affiliation":[{"name":"Pediatric Department, Hospital Universitari Arnau de Vilanova, 25198 Lleida, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Teresa","family":"Coll-Sibina","sequence":"additional","affiliation":[{"name":"Pediatric Hematology Unit, Hospital General de Granollers, 08402 Granollers, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcelina","family":"Algar-Serrano","sequence":"additional","affiliation":[{"name":"Pediatric Department, Hospital de Figueres, 17600 Figueres, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1917-1056","authenticated-orcid":false,"given":"Montserrat","family":"Torrent-Espa\u00f1ol","sequence":"additional","affiliation":[{"name":"Pediatric Oncology and Hematology Department, Hospital de Sant Pau, 08041 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pilar","family":"Leoz-Allegretti","sequence":"additional","affiliation":[{"name":"Hematology Department, Hospital de Sant Pau, 08041 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anabel","family":"Rodr\u00edguez-Peb\u00e9","sequence":"additional","affiliation":[{"name":"Pediatric Hematology Department, Consorci Sanitari del Maresme, 08304 Matar\u00f3, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Garc\u00eda-Bernal","sequence":"additional","affiliation":[{"name":"Pediatric Hematology Department, Consorci Sanitari de Terrassa, 08227 Terrassa, Spain"},{"name":"Pediatric Hematology Department, Hospital Universitari M\u00fatua de Terrassa, 08221 Terrassa, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabet","family":"Sol\u00e0-Segura","sequence":"additional","affiliation":[{"name":"Institut Catal\u00e0 de la Salut (ICS) Catalunya Central, 08500 Vic, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amparo","family":"Garc\u00eda-Gallego","sequence":"additional","affiliation":[{"name":"Institut Catal\u00e0 de la Salut (ICS) Catalunya Central, 08500 Vic, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Blanca","family":"Prats-Viedma","sequence":"additional","affiliation":[{"name":"Maternal and Child Health Service, Public Health Agency of Catalonia (APSCAT), Department of Health, Generalitat de Catalunya, 08005 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa Mar\u00eda","family":"L\u00f3pez-Galera","sequence":"additional","affiliation":[{"name":"Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Cl\u00ednic de Barcelona, 08028 Barcelona, Spain"},{"name":"Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, 28029 Madrid, Spain"},{"name":"Biomedical Research Institute, August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7163-2385","authenticated-orcid":false,"given":"Abraham J.","family":"Paredes-Fuentes","sequence":"additional","affiliation":[{"name":"Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Cl\u00ednic de Barcelona, 08028 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonia","family":"Pajares Garc\u00eda","sequence":"additional","affiliation":[{"name":"Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Cl\u00ednic de Barcelona, 08028 Barcelona, Spain"},{"name":"Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, 28029 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Delgado-L\u00f3pez","sequence":"additional","affiliation":[{"name":"Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Cl\u00ednic de Barcelona, 08028 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adoraci\u00f3n","family":"Blanco-\u00c1lvarez","sequence":"additional","affiliation":[{"name":"Hematology Department, Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e1rbara","family":"Taz\u00f3n-Vega","sequence":"additional","affiliation":[{"name":"Hematology Department, Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8086-296X","authenticated-orcid":false,"given":"Cristina","family":"D\u00edaz de Heredia","sequence":"additional","affiliation":[{"name":"Pediatric Oncology and Hematology Department, Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4770-7460","authenticated-orcid":false,"given":"Mar\u00eda del Mar","family":"Ma\u00f1\u00fa-Pereira","sequence":"additional","affiliation":[{"name":"Rare Anemia Disorders Research Laboratory, Cancer and Blood Disorders Research Group, Vall d\u2019Hebron Institut de Recerca (VHIR), 08035 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Luis","family":"Mar\u00edn-Soria","sequence":"additional","affiliation":[{"name":"Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Cl\u00ednic de Barcelona, 08028 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2132-4138","authenticated-orcid":false,"given":"Judit","family":"Garc\u00eda-Villoria","sequence":"additional","affiliation":[{"name":"Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Cl\u00ednic de Barcelona, 08028 Barcelona, Spain"},{"name":"Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, 28029 Madrid, Spain"},{"name":"Biomedical Research Institute, August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7331-9483","authenticated-orcid":false,"given":"Pablo","family":"Velasco-Puy\u00f3","sequence":"additional","affiliation":[{"name":"Pediatric Oncology and Hematology Department, Hospital Universitari Vall d\u2019Hebron, 08035 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"on behalf of the Sickle Cell Disease Newborn Screening Group of Catalonia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,10,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"480","DOI":"10.2471\/BLT.06.036673","article-title":"Global epidemiology of haemoglobin disorders and derived service indicators","volume":"86","author":"Modell","year":"2008","journal-title":"Bull. 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