Raffaella Origa

TL;DR: A group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals.

TL;DR: In conclusion, rates of survival and complication‐free survival continue to improve, due to better treatment strategies, and new complications are appearing in long‐term survivors.

TL;DR: In thalassemia intermedia, high erythropoietic drive causes severe hepcidin deficiency, which results in hyperabsorption of dietary iron, but also in iron depletion of macrophages, lowering their secretion of ferritin and, consequently, serumferritin levels.

TL;DR: Deferasirox showed a plasma elimination half-life of 8-16 hours, supporting its once-daily administration, and was well tolerated and showed similar efficacy to DFO 40 mg/kg in terms of decreases in LIC.

TL;DR: In a phase 1/2 clinical trial, gene therapy with autologous hematopoietic stem cells significantly reduced transfusion requirement in adults and children with transfusion dependent ß-thalassemia.