Mapping Current and Emerging Laboratory Techniques for Haemoglobinopathy Carrier Detection and Prevention: A Narrative Review from the HELIOS Action

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.