{"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":1774572951573,"version":"3.50.1"},"reference-count":19,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T00:00:00Z","timestamp":1696896000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III (ISCIII)","doi-asserted-by":"publisher","award":["CP20\/00028"],"award-info":[{"award-number":["CP20\/00028"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III (ISCIII)","doi-asserted-by":"publisher","award":["CM22\/00116"],"award-info":[{"award-number":["CM22\/00116"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III (ISCIII)","doi-asserted-by":"publisher","award":["PID2021-126751-NA-100"],"award-info":[{"award-number":["PID2021-126751-NA-100"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Rio Hortega","award":["CP20\/00028"],"award-info":[{"award-number":["CP20\/00028"]}]},{"name":"Rio Hortega","award":["CM22\/00116"],"award-info":[{"award-number":["CM22\/00116"]}]},{"name":"Rio Hortega","award":["PID2021-126751-NA-100"],"award-info":[{"award-number":["PID2021-126751-NA-100"]}]},{"name":"MCIN\/AEI\/10.13039\/501100011033\/","award":["CP20\/00028"],"award-info":[{"award-number":["CP20\/00028"]}]},{"name":"MCIN\/AEI\/10.13039\/501100011033\/","award":["CM22\/00116"],"award-info":[{"award-number":["CM22\/00116"]}]},{"name":"MCIN\/AEI\/10.13039\/501100011033\/","award":["PID2021-126751-NA-100"],"award-info":[{"award-number":["PID2021-126751-NA-100"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Sickle cell disease (SCD) is an inherited autosomal recessive hemoglobin disorder caused by the presence of hemoglobin S, a mutant abnormal hemoglobin caused by a nucleotide change in codon 6 of the \u03b2-globin chain gene. SCD involves a chronic inflammatory state, exacerbated during vaso-occlusive crises, which leads to end-organ damage that occurs throughout the lifespan. SCD is associated with premature mortality in the first years of life. The process of sickling provokes asplenia in the first years of life with an increased risk of infection by encapsulated germs. These complications can be life-threatening and require early diagnosis and management. The most important interventions recommend an early diagnosis of SCD to ensure that affected newborns receive immediate care to reduce mortality and morbidity. The newborn screening program in the region of Murcia for SCD began in March 2016. We aimed to determine the incidence of sickle cell anemia and other structural hemoglobinopathies in the neonatal population of the region of Murcia, an area of high migratory stress, and to systematically assess the benefit of newborn screening for SCD, leading to earlier treatment, as well as to offer genetic counseling to all carriers. The prevalence of SCD in our region is similar to others in Spain, except for Catalonia and Madrid. The newborns with confirmed diagnoses of SCD received early attention, and all the carriers received genetic counseling.<\/jats:p>","DOI":"10.3390\/ijns9040055","type":"journal-article","created":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T10:23:42Z","timestamp":1696933422000},"page":"55","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A Newborn Screening Program for Sickle Cell Disease in Murcia (Spain)"],"prefix":"10.3390","volume":"9","author":[{"given":"Mar\u00eda","family":"S\u00e1nchez-Villalobos","sequence":"first","affiliation":[{"name":"Hematology Service, Virgen de la Arrixaca University Hospital, 30120 Murcia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eulalia","family":"Campos Ba\u00f1os","sequence":"additional","affiliation":[{"name":"Biomedical Research Institute of Murcia (IMIB), 30003 Murcia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Jes\u00fas","family":"Juan Fita","sequence":"additional","affiliation":[{"name":"Biochemistry and Clinical Genetics Center, Virgen de la Arrixaca University Hospital, 30120 Murcia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Mar\u00eda","family":"Egea Mellado","sequence":"additional","affiliation":[{"name":"Biochemistry and Clinical Genetics Center, Virgen de la Arrixaca University Hospital, 30120 Murcia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-2847-7095","authenticated-orcid":false,"given":"Inmaculada","family":"Gonzalez Gallego","sequence":"additional","affiliation":[{"name":"Biochemistry and Clinical Genetics Center, Virgen de la Arrixaca University Hospital, 30120 Murcia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1481-6559","authenticated-orcid":false,"given":"Asunci\u00f3n","family":"Beltr\u00e1n Videla","sequence":"additional","affiliation":[{"name":"Pathological Anatomy Service, Santa Lucia University Hospital, 30202 Cartagena, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5816-8795","authenticated-orcid":false,"given":"Mercedes","family":"Berenguer Piqueras","sequence":"additional","affiliation":[{"name":"Hematology Service, Morales Meseguer Hospital, 30008 Murcia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar","family":"Berm\u00fadez Cort\u00e9s","sequence":"additional","affiliation":[{"name":"Pediatric Service, Virgen de la Arrixaca University Hospital, 30120 Murcia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Mar\u00eda","family":"Moraleda Jim\u00e9nez","sequence":"additional","affiliation":[{"name":"Hematology Service, Virgen de la Arrixaca University Hospital, 30120 Murcia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Encarna","family":"Guillen Navarro","sequence":"additional","affiliation":[{"name":"Pediatric Service, Virgen de la Arrixaca University Hospital, 30120 Murcia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduardo","family":"Salido Fierrez","sequence":"additional","affiliation":[{"name":"Hematology Service, Virgen de la Arrixaca University Hospital, 30120 Murcia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2596-0871","authenticated-orcid":false,"given":"Ana B.","family":"P\u00e9rez-Oliva","sequence":"additional","affiliation":[{"name":"Biomedical Research Institute of Murcia (IMIB), 30003 Murcia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,10,10]]},"reference":[{"key":"ref_1","unstructured":"Erythropathology Group of the Spanish Society of Haematology and Haemotherapy (2021). Guide to Sickle Cell Disease, Medea, Medical Education Agency S.L."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/s13045-022-01237-z","article-title":"Advances in the diagnosis and treatment of sickle cell disease","volume":"15","author":"Brandow","year":"2022","journal-title":"J. Hematol. Oncol."},{"key":"ref_3","first-page":"CD001913","article-title":"Neonatal screening for sickle cell disease","volume":"2000","author":"Lees","year":"2000","journal-title":"Cochrane Database Syst. Rev."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"S28","DOI":"10.1016\/j.annemergmed.2020.08.009","article-title":"Trends in sickle cell disease-related mortality in the United States, 1979 to 2017","volume":"76","author":"Payne","year":"2020","journal-title":"Ann. Emerg. Med."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1111\/bjh.13526","article-title":"How we prevent and manage infection in sickle cell disease","volume":"170","author":"Sobota","year":"2015","journal-title":"Br. J. Haematol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1080\/03630269.2021.1954943","article-title":"Utilization of Pneumococcal Vaccine and Penicillin Prophylaxis in Sickle Cell Disease in Three African Countries: Assessment among Healthcare Providers in SickleInAfrica","volume":"45","author":"Brown","year":"2021","journal-title":"Hemoglobin"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1056\/NEJM198606193142501","article-title":"Prophylaxis with oral penicillin in children with sickle cell anemia","volume":"314","author":"Gaston","year":"1986","journal-title":"N. Engl. J. Med."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1542\/peds.81.6.749","article-title":"Newborn screening for sickle cell disease: Effect on mortality","volume":"81","author":"Vichinsky","year":"1988","journal-title":"Pediatrics"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1600","DOI":"10.1136\/bmj.311.7020.1600","article-title":"Improved survival in homozygous sickle cell disease: Lessons from a cohort study","volume":"311","author":"Lee","year":"1995","journal-title":"BMJ"},{"key":"ref_10","unstructured":"(2019, February 15). Guidelines for the Control of Haemoglobin Disorders. Available online: https:\/\/apps.who.int\/iris\/bitstream\/handle\/10665\/66665\/WHO_HDP_HB_GL_94.1.pdf."},{"key":"ref_11","unstructured":"Health Resources and Services Administration (2018, July 03). Newborn Screening: Toward a Uniform Screening Panel and System, Available online: https:\/\/www.hrsa.gov\/sites\/default\/files\/hrsa\/advisory-committees\/heritable-disorders\/newborn-uniform-screening-panel.pdf."},{"key":"ref_12","unstructured":"UK National Screening Committee (2011). NHS Sickle Cell & Thalassaemia Screening Programme: Standards for the Linked Antenatal and Newborn Screening Programme, NHS Sickle Cell and Thlassaemia Screening Programme Center."},{"key":"ref_13","unstructured":"Poblaci\u00f3n Seg\u00fan Zonas B\u00e1sicas de Salud, Municipio y \u00c1rea de Salud (2023, June 03). Portal Estad\u00edstico de la Regi\u00f3n de Murcia. Available online: https:\/\/econet.carm.es\/inicio\/\/crem\/sicrem\/PU_padron\/p20\/sec29.html#:~:text=CREM%20%20PADR%C3%93N%20MUNICIPAL%20DE%20HABITANTES%20%2026.,salud.%202020%20Fecha%20de%20actualizaci%C3%B3n%3A%2004%2F02%2F2021.%20-%20CREM."},{"key":"ref_14","first-page":"95","article-title":"Update of the Spanish registry of haemoglobinopathies in children and adults","volume":"155","author":"Cancho","year":"2020","journal-title":"Med. Clin."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"N\u00fa\u00f1ez-Jurado, D., Pay\u00e1n-Pern\u00eda, S., \u00c1lvarez-R\u00edos, A.I., Jim\u00e9nez-Jambrina, M., P\u00e9rez-De-Soto, I.C., Palma-Vallellano, A.J., Zapata-Bautista, R., Hern\u00e1ndez-Castellet, J.C., Garrastazul-S\u00e1nchez, M.P., and Arqueros-Mart\u00ednez, V. (2022). Neonatal Screening for Sickle Cell Disease in Western Andalusia: Results and Lessons Learnt after 3 Years of Implementation. Am. J. Perinatol., online ahead of print.","DOI":"10.1055\/s-0042-1759646"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1126\/science.11643273","article-title":"Genetic screening: NAS recommends proceeding with caution","volume":"189","author":"Culliton","year":"1975","journal-title":"Science"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1001\/jama.1987.03400090089040","article-title":"Newborn screening for sickle cell disease and other hemoglobinopathies","volume":"258","author":"Wethers","year":"1987","journal-title":"JAMA"},{"key":"ref_18","first-page":"813","article-title":"Newborn screening for sickle cell disease: 4 yearsof experience from California\u2019s newborn screening program","volume":"83","author":"Shafer","year":"1996","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/S0022-3476(00)70102-8","article-title":"Universalversus targeted screening of infants for sickle cell disease: A cost-effectiveness analysis","volume":"136","author":"Panepinto","year":"2000","journal-title":"J. Pediatr."}],"container-title":["International Journal of Neonatal Screening"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2409-515X\/9\/4\/55\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T21:04:29Z","timestamp":1760130269000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2409-515X\/9\/4\/55"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,10]]},"references-count":19,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2023,12]]}},"alternative-id":["ijns9040055"],"URL":"https:\/\/doi.org\/10.3390\/ijns9040055","relation":{},"ISSN":["2409-515X"],"issn-type":[{"value":"2409-515X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,10]]}}}