Management of Iron Overload in Infants and Toddlers With Diamond-Blackfan Anemia Syndrome: A French-Italian Study

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.