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

International Journal of Molecular Sciences, vol. 27, pp. 3916

Abstract

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.

Authors 10

1. Norafiza Mohd Yasin corresponding Aachen Department of Clinical Genetics/LDGA

   Leiden University Medical Center · Institute for Medical Research · National Institutes of Health

   Affiliation as printed

   Department of Clinical Genetics/LDGA, Leiden University Medical Center, 2300 RC Leiden, The Netherlands

   Haematology Unit, Cancer Research Centre (CaRC), Institute for Medical Research (IMR), National Institute for Health (NIH), Setia Alam 40170, Selangor, Malaysia

2. Sotiroula Chatzimatthaiou

   Cyprus Institute of Neurology and Genetics

   Affiliation as printed

   Department of Blood Disorder Genetics and Thalassaemia, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus

3. Adela Perolla

   University of Medicine Tirana

   Affiliation as printed

   Faculty of Medicine, University of Medicine, 1005 Tirana, Albania

4. A del Cañizo Alvarez

   Vall d'Hebron Hospital Universitari · Vall d'Hebron Institute of Oncology

   Affiliation as printed

   Haematology Molecular Genetics Unit, Department of haematology, Hospital Universitari Vall d’Hebron (HUVH), Experimental Haematology, Vall d’Hebron Institute of Oncology (VHIO), 08035 Barcelona, Spain

5. Miguel Brito

   Universidade Politécnica de Lisboa · Centro de Investigação em Saúde e Tecnologia

   Affiliation as printed

   Health and Technology Research Center, Escola Superior de Saúde de Lisboa, Instituto Politécnico de Lisboa, 1990-096 Lisboa, Portugal

6. Ghada Y. El‐Kamah

   National Research Centre

   Affiliation as printed

   Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt

7. Merita Xhetani

   University of Tirana

   Affiliation as printed

   Center of Molecular Diagnostic and Genetics Research, University Hospital Obstetrics and Gynecology “Mbretëresha Geraldinë”, 1045 Tirana, Albania

   Department of Biology, Faculty of Natural Sciences, University of Tirana, 1009 Tirana, Albania

8. Petros Kountouris

   Cyprus Institute of Neurology and Genetics

   Affiliation as printed

   Department of Blood Disorder Genetics and Thalassaemia, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus

9. Coralea Stephanou

   Cyprus Institute of Neurology and Genetics

   Affiliation as printed

   Department of Blood Disorder Genetics and Thalassaemia, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus

10. J Jan Traeger-Synodinos

    National and Kapodistrian University of Athens

    Affiliation as printed

    School of Medicine, National and Kapodistrian University of Athens, 11527 Athens, Greece