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.

Haemoglobinopathies remain a major public health challenge, predominantly in endemic regions. Increasing migration has extended their prevalence in previously non-endemic areas, complicating early detection and prevention. As part of the HELIOS CA22119 COST Action Working Group 1, this narrative review critically examines established and emerging laboratory techniques for haemoglobinopathy carrier detection. It also explores diagnostic limitations, regional disparities, and opportunities for global harmonisation to support early detection, prevention, and equitable care. A literature search of MEDLINE, PubMed, Scopus, and EMBASE (2014–2024) identified studies on the screening, diagnosis, and prevention of haemoglobinopathies. Findings were synthesised across three domains: (1) preventive strategies, (2) carrier screening methods, and (3) prenatal diagnostic approaches. Advances in molecular technologies have improved diagnostic sensitivity and specificity. However, conventional haematological approaches, particularly complete blood count and haemoglobin typing, remain essential and cost-effective first-line tools. Key challenges include unequal access to advanced diagnostics and the lack of standardised protocols across regions. Strengthening prevention requires coordinated global efforts to promote accessible, accurate, and standardised diagnostic approaches tailored to regional genomic, economic, and healthcare contexts. Early and equitable carrier detection, combined with effective prenatal diagnosis, is critical to reducing the global burden and improving health outcomes in both endemic and emerging regions.