Thalassaemia.

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

Journal: Nature reviews. Disease primers 2026;12(1):

PMID: 42426018

Full Text on Nature Publishing Group View on PubMed

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.

Address: Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK. [email protected].; Department of General Pediatrics and Pediatric Infectious Diseases, Sickle Cell Center, Necker-Enfants Malades Hospital, Assistance Publique - Hôpitaux de Paris (AP-HP), Université Paris-Cité, LABEX GR-Ex, and NSERM, EFS, BIGR U1134, Paris, France.; Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.; Department of Medicine, University Health Network and Division of Hematology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.; Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.; Center for Research on Rare Blood Disorders (CR-RBD) and Thalassemia & Sickle Cell Center, Burjeel Cancer Institute, Burjeel Medical City, Abu Dhabi, United Arab Emirates.; Department of Public Health and Epidemiology, Khalifa University, Abu Dhabi, United Arab Emirates.; Division of Hematology/Oncology, Department of Pediatrics, Weill Cornell Medicine, New York, NY, USA.; Department of Pediatrics, University of California, San Francisco, Oakland, CA, USA.; Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Salaya and Samitivej Srinakarin Hospital, Bangkok, Thailand.; Thalassaemia International Federation, Nicosia, Cyprus.; MRC Weatherall Institute of Molecular Medicine and Chinese Academy of Medical Sciences Oxford Institute, University of Oxford, Oxford, UK.; Division of Hematology, Benioff Children's Hospital, Oakland, CA, USA.; Unit of Medicine and Metabolic Disease, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Engineering for innovative medicine, University of Verona, Azienda Ospedaliera Universitaria Integrata di Verona, Verona, Italy.

DOI: 10.1038/s41572-026-00722-w

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https://doi.org/10.1038/s41572-026-00722-w

MeSH Terms: Humans, Thalassemia, Blood Transfusion, Iron Chelating Agents, alpha-Thalassemia, Quality of Life, Neonatal Screening