biostudies-literatureDi Modica SMFondazione CariploMinistero della SaluteCooley's Anemia FoundationTelethonNIDDK NIH HHSNational Institute of Diabetes and Digestive and Kidney DiseasesEuropean Hematology AssociationAmerican Society of HematologyPennsylvania Department of HealthCooley's Anemia FoundationThe Children's Hospital of Philadelphia1324-1336https://www.ebi.ac.uk/biostudies/studies/S-EPMC9540808biostudies-literatureUnknown97(10)β-thalassemia is a genetic disorder caused by mutations in the β-globin gene, and characterized by anemia, ineffective erythropoiesis and iron overload. Patients affected by the most severe transfusion-dependent form of the disease (TDT) require lifelong blood transfusions and iron chelation therapy, a symptomatic treatment associated with several complications. Other therapeutic opportunities are available, but none is fully effective and/or applicable to all patients, calling for the identification of novel strategies. Transferrin receptor 2 (TFR2) balances red blood cells production according to iron availability, being an activator of the iron-regulatory hormone hepcidin in the liver and a modulator of erythropoietin signaling in erythroid cells. Selective Tfr2 deletion in the BM improAmerican journal of hematologyTransferrin receptor 2 (Tfr2) genetic deletion makes transfusion-independent a murine model of transfusion-dependent β-thalassemia.PMC9540808Commonwealth Universal Research Enhancement ‐ C.U.Telethon SR‐TIGET Core GrantAdvanced Research Grant 2020GR‐2019‐12369583"Young Investigator" Grant n° 2017-0916Commonwealth Universal Research Enhancement - C.U.R01 DK090554Telethon SR-TIGET Core GrantGR-2019-12369583Global Research Award 2017R01 DK095112“Young Investigator” Grant n° 2017‐0916Research Fellowship 2017‐2019Supplement Award 2021Research Fellowship 2017-2019CuRED-Frontier ProgramFuriosi VSilvestri LPettinato MDi Modica SMOlivari VTiboni FFerrari GRivella SLidonnici MRTanzi EPagani ANai AfalseTransferrin receptor 2 (Tfr2) genetic deletion makes transfusion-independent a murine model of transfusion-dependent β-thalassemia.β-thalassemia is a genetic disorder caused by mutations in the β-globin gene, and characterized by anemia, ineffective erythropoiesis and iron overload. Patients affected by the most severe transfusion-dependent form of the disease (TDT) require lifelong blood transfusions and iron chelation therapy, a symptomatic treatment associated with several complications. Other therapeutic opportunities are available, but none is fully effective and/or applicable to all patients, calling for the identification of novel strategies. Transferrin receptor 2 (TFR2) balances red blood cells production according to iron availability, being an activator of the iron-regulatory hormone hepcidin in the liver and a modulator of erythropoietin signaling in erythroid cells. Selective Tfr2 deletion in the BM impro2022-01-01T00:00:00Z2022 Oct2025-04-19T04:46:48.931Z2025-04-19T04:46:48.931ZS-EPMC95408083607157910.1002/ajh.26673