Authors
Frédéric B Piel, Mariane de Montalembert, Reena Das, Kevin H M Kuo, Ali T Taher, Khaled M Musallam, Marsha Treadwell, Suthat Fucharoen, Michael Angastiniotis, Douglas Higgs, Elliott Vichinsky, Maria Domenica Cappellini, Lucia De Franceschi
Published in
Nature reviews. Disease primers. Volume 12. Issue 1. Jul 09, 2026. Epub Jul 09, 2026.
Abstract
The thalassaemia syndromes, which primarily include α-thalassaemia and β-thalassaemia, are a complex group of inherited disorders affecting haemoglobin production. They are prevalent throughout the most populated parts of the world and span a wide range of severity from mild to fatal. Advances in the management of these syndromes, including blood transfusion and iron chelation, have led to substantial improvements in the life expectancy and quality of life of many patients worldwide. Nevertheless, major forms of thalassaemia are still associated with chronic comorbidities and remain an important but neglected global health burden. Prevention and advances in the treatment and management of the thalassaemia syndromes rely on the early identification of people affected, either through prenatal or premarital screening or through newborn screening or testing at later stages in life. This depends on the availability of expertise, facilities and treatment options for patients. Fast and groundbreaking developments in disease-modifying and curative gene editing therapies are promising, but not without challenges in terms of costs, accessibility and uncertainties around their long-term benefits and safety. Better awareness, patient-centred approaches and coordinated strategies are needed to reduce current inequalities.
PMID:
42426018
Bibliographic data and abstract were imported from PubMed on 10 Jul 2026.
Read full publication at:
Please sign in
to see all details.
Advertisement
Stats
- Recommendations n/a n/a positive of 0 vote(s)
- Views 3
- Comments 0