Management of Iron Overload in Infants and Toddlers With Diamond–Blackfan Anemia Syndrome: A French–Italian Study
Year: 2026
Type: article
Study design: Observational Study
Abstract: Diamond-Blackfan Anemia Syndrome (DBAS) is a rare congenital anemia often requiring chronic red blood cell transfusions from infancy. Without appropriate chelation, iron overload develops early and may be severe; however, no data are available on chelation in patients under 3 years of age. To address this, we conducted a retrospective, multicenter study collecting data from the French and Italian DBAS national registries. A total of 167 transfused DBAS patients were screened. Of these, 64 (38%) initiated chelation before the age of three (median: 18 months). Indications for chelation were a serum ferritin ≥ 500 ng/mL (median: 1340 ng/mL) and more than 10 transfusions. Deferasirox was the most frequently used chelator (63%), followed by deferoxamine (35%). Chelation was associated with a significant reduction in serum ferritin levels (-11% per year; p < 0.001). At 5-6 years of age, ferritin level was available for 28 patients: 43% had levels < 500 ng/mL, and none exceeded 2000 ng/mL. Liver iron concentration was assessed in 31/64 patients (48%) at a median age of 3.2 years; 45% showed severe overload at first evaluation. Among 22 patients who underwent cardiac magnetic resonance, no myocardial iron overload was detected. These real-world data support the feasibility, tolerability, and effectiveness of chelation in transfusion-dependent DBAS patients under 3 years, allowing prevention of cardiac iron overload. Although derived from DBAS, these findings may inform the management of iron overload in infants and toddlers with other transfusion-dependent anemias and support development of age-specific chelation strategies.
Source: American Journal of Hematology
DOI: 10.1002/ajh.70354
Authors: Francesca Torchio, Baptiste Lecalvez, Emanuela Garelli, Coralie Mallebranche, Adriana Carando, Marie‐Pierre Castex, Nathalie Garnier, Marco Zecca, Nathalie Aladjidi, Elisa Bertoni, Arthur Sterin, Maria Licciardello, Anne Sirvent, Antonella Sau, Isabelle Marie, Benedicte Bruno, Lydie M. Da Costa, Franca Fagioli, Paola Quarello, Thierry Leblanc
Institutions: University of Turin, Université Paris Cité, Hôpital Robert-Debré, Groupe Hospitalo-Universitaire Paris Nord, Centre National de la Recherche Scientifique, Inserm, Centre de Recherche en Cancérologie et Immunologie Intégrée Nantes Angers, Centre Hospitalier Universitaire d'Angers, Université de Nantes, Université d'Angers, Nantes Université, Hôpital des Enfants, Institut d’Hématologie et d’Oncologie Pédiatrique, Hospices Civils de Lyon, Policlinico San Matteo Fondazione, Centre Hospitalier Universitaire de Bordeaux, Hôpital Pellegrin, Centre d'Investigation Clinique Plurithématique de Bordeaux, Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia, Hôpital de la Timone, University of Catania, Centre Hospitalier Universitaire de Montpellier, Hôpital Saint-Louis, Hôpital Jeanne de Flandre, Université Paris-Saclay, Institut Gustave Roussy, Bicêtre Hospital, Ospedale Regina Margherita, HIPI - Immunologie humaine, physiopathologie et immunithérapie
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $5,450
OpenAlex ID: W7160873179