{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Di Modica SM"],"funding":["Fondazione Cariplo","Ministero della Salute","Cooley's Anemia Foundation","Telethon","NIDDK NIH HHS","National Institute of Diabetes and Digestive and Kidney Diseases","European Hematology Association","American Society of Hematology","Pennsylvania Department of Health","Cooley's Anemia Foundation","The Children's Hospital of Philadelphia"],"pagination":["1324-1336"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9540808"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["97(10)"],"pubmed_abstract":["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 impro"],"journal":["American journal of hematology"],"pubmed_title":["Transferrin receptor 2 (Tfr2) genetic deletion makes transfusion-independent a murine model of transfusion-dependent β-thalassemia."],"pmcid":["PMC9540808"],"funding_grant_id":["Commonwealth Universal Research Enhancement ‐ C.U.","Telethon SR‐TIGET Core Grant","Advanced Research Grant 2020","GR‐2019‐12369583","\"Young Investigator\" Grant n° 2017-0916","Commonwealth Universal Research Enhancement - C.U.","R01 DK090554","Telethon SR-TIGET Core Grant","GR-2019-12369583","Global Research Award 2017","R01 DK095112","“Young Investigator” Grant n° 2017‐0916","Research Fellowship 2017‐2019","Supplement Award 2021","Research Fellowship 2017-2019","CuRED-Frontier Program"],"pubmed_authors":["Furiosi V","Silvestri L","Pettinato M","Di Modica SM","Olivari V","Tiboni F","Ferrari G","Rivella S","Lidonnici MR","Tanzi E","Pagani A","Nai A"],"additional_accession":[]},"is_claimable":false,"name":"Transferrin receptor 2 (Tfr2) genetic deletion makes transfusion-independent a murine model of transfusion-dependent β-thalassemia.","description":"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 impro","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Oct","modification":"2025-04-19T04:46:48.931Z","creation":"2025-04-19T04:46:48.931Z"},"accession":"S-EPMC9540808","cross_references":{"pubmed":["36071579"],"doi":["10.1002/ajh.26673"]}}