Publications
Publications by the HELIOS Network
HELIOS Action: Advancing research, education, and equity in hemoglobinopathies across Europe and beyond
HELIOS Action: Advancing research, education, and equity in hemoglobinopathies across Europe and beyond is an editorial outlining the mission and strategic priorities of the HELIOS network, focused on strengthening collaboration, improving research and education, and promoting equitable care for individuals affected by hemoglobinopathies across Europe and internationally.
DOI: 10.1002/hem3.70258
Chatzimatthaiou, S., Bonifazi, F., Gimbert, A.C., Colombatti, R., Cremonesi, F., Glenthøj, A., Mezzalira, E., Stephanou, C., Traeger‐Synodinos, J., Antic, D. and Durmaz, B., 2025. HELIOS Action: Advancing research, education, and equity in hemoglobinopathies across Europe and beyond. HemaSphere, 9(12), p.e70258.
Mapping Expertise and Educational Needs for Hemoglobinopathies: Insights from HELIOS COST Action Healthcare Professionals
Mapping Expertise and Educational Needs for Hemoglobinopathies: Insights from HELIOS COST Action Healthcare Professionals presents the results of a multicentre survey assessing clinical expertise and educational priorities among healthcare professionals involved in hemoglobinopathy care. The study highlights key training gaps and emerging needs to support capacity building and more harmonised care delivery across centres. DOI: 10.1016/j.bglo.2025.100060
Mezzalira, E., D’Agnolo, M., Antić, D., Basile, F., Bonifazi, F., Gimbert, A.C., Cremonesi, F., Durmaz, B., Gavriilaki, E., Glenthøj, A. and Inusa, B., 2025. Mapping Expertise and Educational Needs for Hemoglobinopathies: Insights from HELIOS COSTAction Healthcare Professionals. Blood Global Hematology, p.100060.
FAIR data gaps and collaboration willingness among hemoglobinopathy research centers
FAIR data gaps and collaboration willingness among hemoglobinopathy research centers presents a dataset and analysis based on a survey conducted within the HELIOS network to assess data management practices, adherence to FAIR (Findable, Accessible, Interoperable, and Reusable) principles, and collaboration readiness among hemoglobinopathy research centers. The study highlights current gaps and challenges in data sharing and interoperability while identifying opportunities to strengthen collaboration and improve research infrastructure in the field of hemoglobinopathies.
DOI: 10.1038/s41597-026-06950-9
Tamana, S., Yiangou, K., Orphanou, K., Chatzimatthaiou, S., Kountouris, P., and Cremonesi, F., 2026. FAIR data gaps and collaboration willingness among hemoglobinopathy research centers. Scientific Data.
Mapping Diagnostic Practices in Hemoglobinopathies: A Cross-Country HELIOS COST Action Study
Mapping Diagnostic Practices in Hemoglobinopathies: A Cross-Country HELIOS COST Action Study presents the results of a large multicentre survey conducted across 20 countries and 38 centres, examining current diagnostic approaches for hemoglobinopathies. The study provides a comprehensive overview of methodologies in use, highlighting variability in access to advanced genomic tools, screening programmes, and laboratory policies. It identifies key gaps and opportunities to support harmonisation, strengthen diagnostic capacity, and promote more equitable care across different healthcare settings. DOI: 10.1182/bloodadvances.2025019061
Stephanou, C., Chatzimatthaiou, S., Kountouris, P. and Traeger-Synodinos, J., 2026. Mapping Diagnostic Practices in Hemoglobinopathies: A Cross-Country HELIOS COST Action Study. Blood Advances, pp.bloodadvances-2025019061.
Publications Supported by the HELIOS Network
Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia
Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia investigates how genetic variants affecting SUPT5H may influence disease severity in β-thalassemia. The study provides evidence that SUPT5H loss-of-function variants can act as modifying factors, supporting the role of genetic modifiers in explaining variability in clinical phenotype among patients.
DOI: 10.3390/ijms25168928
Harteveld, C.L., Achour, A., Fairuz Mohd Hasan, N.F., Legebeke, J., Arkesteijn, S.J., Huurne, J.T., Verschuren, M., Bhagwandien-Bisoen, S., Schaap, R., Vijfhuizen, L. and Idrissi, H.E., 2024. Loss-of-function variants in SUPT5H as modifying factors in Beta-Thalassemia. International Journal of Molecular Sciences, 25(16), p.8928.
Genetic Polymorphisms Associated with Fetal Hemoglobin (HbF) Levels and F-Cell Numbers: A Systematic Review of Genome-Wide Association Studies
Genetic Polymorphisms Associated with Fetal Hemoglobin (HbF) Levels and F-Cell Numbers: A Systematic Review of Genome-Wide Association Studies summarizes evidence from GWAS on genetic variants linked to HbF regulation and F-cell production. The review highlights key loci and polymorphisms influencing HbF levels, supporting their relevance as modifiers of disease severity and as potential targets for therapeutic strategies in hemoglobinopathies.
DOI: 10.3390/ijms252111408
Stephanou, C., Menzel, S., Philipsen, S. and Kountouris, P., 2024. Genetic Polymorphisms Associated with Fetal Hemoglobin (HbF) Levels and F-Cell Numbers: A Systematic Review of Genome-Wide Association Studies. International Journal of Molecular Sciences, 25(21), p.11408.
ACMG/AMP-Based Variant Classification of a Novel HBA2 Variant (HBA2: C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:C.179G>A) Causing Non-Deletional Hb H Disease
ACMG/AMP-Based Variant Classification of a Novel HBA2 Variant (HBA2:c.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:c.179G>A) Causing Non-Deletional Hb H Disease reports the identification and characterisation of a novel α-globin variant, Hb Taiping, in a family with α-thalassaemia. The study applies ACMG/AMP guidelines adapted for globin genes to classify the variant as pathogenic and demonstrates that, when co-inherited with Hb Adana, it results in a severe non-deletional Hb H disease phenotype. These findings expand the mutational spectrum of α-thalassaemia and highlight the importance of accurate variant classification for diagnosis, genetic counselling, and clinical management.
DOI: https://doi.org/10.1111/ijlh.70037
Yasin, N.M., Somasundram, S., Hassan, S., et al., 2026. ACMG/AMP-Based Variant Classification of a Novel HBA2 Variant (Hb Taiping) in Compound Heterozygosity With Hb Adana Causing Non-Deletional Hb H Disease. International Journal of Laboratory Hematology.