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

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....

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Detalles Bibliográficos
Autores: González de Aledo-Castillo JM, Argudo-Ramírez A, Beneitez-Pastor D, Collado-Gimbert A, Almazán Castro F, Roig-Bosch S, Andrés-Masó A, Ruiz-Llobet A, Pedrals-Portabella G, Medina-Santamaria D, Nadal-Rey G, Espigares-Salvia M, Coll-Sibina MT, Algar-Serrano M, Torrent-Español M, Leoz-Allegretti P, Rodríguez-Pebé A, García-Bernal M, Solà-Segura E, García-Gallego A, Prats-Viedma B, López-Galera RM, Paredes-Fuentes AJ, Pajares García S, Delgado-López G, Blanco-Álvarez A, Tazón-Vega B, Díaz de Heredia C, Mañú-Pereira MDM, Marín-Soria JL, García-Villoria J, Velasco-Puyó P, On Behalf Of The Sickle Cell Disease Newborn Screening Group Of Catalonia
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Fundació Sant Joan de Déu
Repositorio:r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
OAI Identifier:oai:fsjd.fundanetsuite.com:p26965
Acceso en línea:https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=26965
Access Level:acceso abierto
Palabra clave:clinical events
hemoglobinopathies
newborn screening
sickle cell disease
treatment intervention
Descripción
Sumario: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.

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