Translational and innovative approaches in Thalassemia: from molecular mechanisms to therapeutics

Background

Thalassemia remains one of the most prevalent inherited hematologic disorders worldwide and continues to represent a major public health challenge, particularly in regions with high carrier frequencies. Over the past decades, advances in molecular genetics have considerably improved our understanding of globin gene regulation, disease pathophysiology, and genotype–phenotype relationships. These discoveries have contributed to more accurate diagnostic strategies and have laid the foundation for the development of novel therapeutic interventions. At the same time, the clinical landscape of thalassemia is evolving, with increasing attention being paid to long-term disease complications, patient quality of life, and personalized care. As the field continues to expand rapidly, there is a growing need to integrate emerging scientific knowledge with advances in patient management and healthcare delivery.

Although major progress has transformed the management of thalassemia, several important challenges remain unresolved. Disease severity and clinical outcomes vary widely among patients, reflecting complex interactions between genetic, biological, and environmental factors that are not yet fully understood. Furthermore, the implementation of emerging therapeutic strategies in routine clinical practice raises important scientific, medical, and socioeconomic questions, particularly in resource-limited settings.

This Research Topic aims to provide a forum for discussing current challenges and future opportunities across the thalassemia field. By bringing together contributions from researchers and clinicians working at different levels of investigation, the collection seeks to promote a comprehensive understanding of disease mechanisms, improve risk stratification and patient management, and support the development of more effective and accessible therapeutic strategies. Ultimately, the goal is to foster multidisciplinary collaboration and help define priorities for the next generation of thalassemia research and care.

This Research Topic welcomes contributions addressing innovative and translational aspects of thalassemia research, from fundamental molecular mechanisms to clinical and therapeutic applications. Areas of interest include, but are not limited to:

• Molecular and cellular mechanisms of disease
• Genomics, epigenetics, and genetic modifiers of disease severity
• Innovative experimental and disease models
• Advances in gene therapy, genome editing, and stem cell approaches
• Development of small-molecule and targeted therapeutics
• Biomarkers, precision medicine, and personalized therapeutic strategies
• Translational and implementation studies linking laboratory findings to clinical outcomes
• Advances in diagnostics, screening, and disease monitoring
• Long-term management, complications, and quality-of-life studies
• Global health perspectives, healthcare disparities, and access to innovative therapies

We welcome Original Research Articles, Review Articles, Systematic Reviews, Mini Reviews, Clinical Studies, Case report, and Opinion articles that provide novel insights and foster interdisciplinary collaboration in the field of thalassemia research and care.

Article types and fees

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Case Report
• Clinical Trial
• Community Case Study
• Data Report
• Editorial
• FAIR² Data
• General Commentary
• Hypothesis and Theory
• ... View all formats

Articles that are accepted for publication by our external editors following rigorous peer review incur a publishing fee charged to Authors, institutions, or funders.

Article types

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

• Brief Research Report
• Case Report
• Clinical Trial
• Community Case Study
• Data Report
• Editorial
• FAIR² Data
• General Commentary
• Hypothesis and Theory
• Methods
• Mini Review
• Opinion
• Original Research
• Perspective
• Policy and Practice Reviews
• Policy Brief
• Review
• Study Protocol
• Systematic Review
• Technology and Code

Keywords: Thalassemia, Molecular mechanisms, translational research, genomics, genetic modifiers, gene therapy, fetal hemoglobin, therapeutic innovation, clinical management, precision medicine

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.