Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022—Epidemiology and Impact on Clinical Events

Abstract

by José Manuel González de Aledo-Castillo,Ana Argudo-Ramírez,David Beneitez-Pastor,Anna Collado-Gimbert,Francisco Almazán Castro,Sílvia Roig-Bosch,Anna Andrés-Masó,Anna Ruiz-Llobet,Georgina Pedrals-Portabella,David Medina-Santamaria,Gemma Nadal-Rey,Marina Espigares-Salvia,Maria Teresa Coll-Sibina,Marcelina Algar-Serrano,Montserrat Torrent-Español,Pilar Leoz-Allegretti,Anabel Rodríguez-Pebé,Marta García-Bernal,Elisabet Solà-Segura,Amparo García-Gallego,add Show full author list
Int. J. Neonatal Screen. 2024, 10(4), 69; https://doi.org/10.3390/ijns10040069 - 3 Oct 2024
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Abstract
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 < 0.0001), and initiated penicillin prophylaxis (0.12 y vs. 1.86 y, p < 0.0001) and hydroxyurea treatment earlier (1.42 y vs. 4.5 y, p < 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 < 0.0001), a reduced number of annual emergency department visits (0.37 vs. 0.76, p < 0.0001), and fewer hospitalizations (0.33 vs. 0.72, p < 0.0001). SCD screening in Catalonia’s NBS program has effectively reduced morbidity and improved affected children’s quality of life. Full article
8 pages, 704 KiB
Open AccessArticle