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

Autor: González de Aledo-Castillo JM; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic de Barcelona, 08028 Barcelona, Spain., Argudo-Ramírez A; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic de Barcelona, 08028 Barcelona, Spain., Beneitez-Pastor D; Hematology Department, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., Collado-Gimbert A; Pediatric Oncology and Hematology Department, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., Almazán Castro F; Pediatric Hematology Unit, Hospital Germans Trias i Pujol, 08916 Badalona, Spain., Roig-Bosch S; Pediatric Department, Hospital Santa Caterina, Institut d'Assistència Sanitària, 17190 Salt, Spain., Andrés-Masó A; Pediatric Department, Hospital Santa Caterina, Institut d'Assistència Sanitària, 17190 Salt, Spain., Ruiz-Llobet A; Pediatric Oncology and Hematology Department, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Pedrals-Portabella G; Pediatric Oncology and Hematology Department, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Medina-Santamaria D; Pediatric Hematology Unit, Hospital Universitari Sant Joan de Reus, 43204 Reus, Spain., Nadal-Rey G; Pediatric Department, Hospital Universitari Arnau de Vilanova, 25198 Lleida, Spain., Espigares-Salvia M; Pediatric Department, Hospital Universitari Arnau de Vilanova, 25198 Lleida, Spain., Coll-Sibina MT; Pediatric Hematology Unit, Hospital General de Granollers, 08402 Granollers, Spain., Algar-Serrano M; Pediatric Department, Hospital de Figueres, 17600 Figueres, Spain., Torrent-Español M; Pediatric Oncology and Hematology Department, Hospital de Sant Pau, 08041 Barcelona, Spain., Leoz-Allegretti P; Hematology Department, Hospital de Sant Pau, 08041 Barcelona, Spain., Rodríguez-Pebé A; Pediatric Hematology Department, Consorci Sanitari del Maresme, 08304 Mataró, Spain., García-Bernal M; Pediatric Hematology Department, Consorci Sanitari de Terrassa, 08227 Terrassa, Spain.; Pediatric Hematology Department, Hospital Universitari Mútua de Terrassa, 08221 Terrassa, Spain., Solà-Segura E; Institut Català de la Salut (ICS) Catalunya Central, 08500 Vic, Spain., García-Gallego A; Institut Català de la Salut (ICS) Catalunya Central, 08500 Vic, Spain., Prats-Viedma B; Maternal and Child Health Service, Public Health Agency of Catalonia (APSCAT), Department of Health, Generalitat de Catalunya, 08005 Barcelona, Spain., López-Galera RM; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic de Barcelona, 08028 Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, 28029 Madrid, Spain.; Biomedical Research Institute, August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain., Paredes-Fuentes AJ; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic de Barcelona, 08028 Barcelona, Spain., Pajares García S; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic de Barcelona, 08028 Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, 28029 Madrid, Spain., Delgado-López G; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic de Barcelona, 08028 Barcelona, Spain., Blanco-Álvarez A; Hematology Department, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., Tazón-Vega B; Hematology Department, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., Díaz de Heredia C; Pediatric Oncology and Hematology Department, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., Mañú-Pereira MDM; Rare Anemia Disorders Research Laboratory, Cancer and Blood Disorders Research Group, Vall d'Hebron Institut de Recerca (VHIR), 08035 Barcelona, Spain., Marín-Soria JL; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic de Barcelona, 08028 Barcelona, Spain., García-Villoria J; Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic de Barcelona, 08028 Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, 28029 Madrid, Spain.; Biomedical Research Institute, August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain., Velasco-Puyó P; Pediatric Oncology and Hematology Department, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., On Behalf Of The Sickle Cell Disease Newborn Screening Group Of Catalonia
Jazyk: angličtina
Zdroj: International journal of neonatal screening [Int J Neonatal Screen] 2024 Oct 03; Vol. 10 (4). Date of Electronic Publication: 2024 Oct 03.
DOI: 10.3390/ijns10040069
Abstrakt: 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.
Databáze: MEDLINE
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