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
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
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
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