Research & Literature
Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.
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American University of Beirut Medical Center
Beirut, Lebanon
Cornell University
Ithaca, United States
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Milan, Italy
Siriraj Hospital
Bangkok, Thailand
Children's Hospital of Philadelphia
Philadelphia, United States
University of Toronto
Toronto, Canada
National and Kapodistrian University of Athens
Athens, Greece
Inserm
Paris, France
Ente Ospedaliero Ospedali Galliera
Genoa, Italy
UCSF Benioff Children's Hospital
Oakland, United States
References
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Long-term safety and efficacy of deferasirox in young pediatric patients with transfusional hemosiderosis: Results from a 5-year observational study (ENTRUST).
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Pediatric blood & cancer 2017; (64(9)) doi:10.1002/pbc.26507.
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Incomplete paraplegia caused by extramedullary hematopoiesis in a patient with thalassemia intermedia.
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Spinal cord series and cases 2017; (3()):17020 doi:10.1038/scsandc.2017.20.
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Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia.
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Cold Spring Harbor molecular case studies 2017; (3(6)) doi:10.1101/mcs.a001941.
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Severe Liver Iron Concentrations (LIC) in 24 Patients with β-Thalassemia Major: Correlations with Serum Ferritin, Liver Enzymes and Endocrine Complications.
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Mahidol Scoring for Assessing Various Grades of β Thalassemia Intermedia.
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Challenges of blood transfusions in β-thalassemia.
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Clinico-hematological Profile of Hb E-β Thalassemia-Prospective Analysis in a tertiary Care Centre.
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A Phase 3 Trial of Luspatercept in Patients with Transfusion-Dependent β-Thalassemia.
Cappellini MD, Viprakasit V, Taher AT, et al.
The New England journal of medicine 2020; (382(13)):1219-1231 doi:10.1056/NEJMoa1910182.
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An assessment of the continuing medical education needs of US physicians in the management of patients with beta thalassemia.
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Annals of hematology 2021; (100(1)):27-35 doi:10.1007/s00277-020-04246-5.
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A Rare Case of Hemoglobin E/Beta-Thalassemia and Systemic Lupus Erythematosus.
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Cureus 2020; (12(9)):e10332 doi:10.7759/cureus.10332.
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Challenges in chronic transfusion for patients with thalassemia.
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The Prevalence of HBB Mutations among the Transfusion-Dependent and Non Transfusion-Dependent Hb E/β-Thalassemia Children in a Tertiary Center of West Bengal, India.
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Hemoglobin 2021; (45(3)):157-162 doi:10.1080/03630269.2021.1933023.
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Novel Therapeutic Advances in β-Thalassemia.
Makis A, Voskaridou E, Papassotiriou I, Hatzimichael E
Biology 2021; (10(6)) doi:10.3390/biology10060546.
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Prenatal Screening and Diagnosis of ß-Thalassemia in India: Is ARMS-PCR Enough?
Ghosh S, Chakrabarti S, Bhattacharyya M
Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 2021; (37(3)):448-452 doi:10.1007/s12288-020-01370-0.
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Drug Repurposing: Hydroxyurea Therapy Improves the Transfusion-Free Interval in HbE/Beta-Thalassemia-Major Patients with the XmnI Polymorphism.
Ghosh D, Panja A, Saha D, et al.
Genetic testing and molecular biomarkers 2021; (25(8)):563-570 doi:10.1089/gtmb.2021.0031.
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Alloimmunization in transfused patients with constitutional anemias in Norway.
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Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2021; (60(5)):103257 doi:10.1016/j.transci.2021.103257.
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Relationship between transfusion burden, healthcare resource utilization, and complications in patients with beta-thalassemia in Taiwan: A real-world analysis.
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Transfusion 2021; (61(10)):2906-2917 doi:10.1111/trf.16636.
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Transfer of Care for People with Severe Forms of Thalassemia: Learning from Past Experiences to Create a Transition Plan.
Morse LA, Sawh RN
Journal of pediatric nursing 2021; (61()):378-386 doi:10.1016/j.pedn.2021.08.007.
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Reduced hepcidin expression enhances iron overload in patients with HbE/β-thalassemia: Α comparative cross-sectional study.
Saad HKM, Taib WRW, Ismail I, et al.
Experimental and therapeutic medicine 2021; (22(6)):1402 doi:10.3892/etm.2021.10838.
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Hurdles to the Adoption of Gene Therapy as a Curative Option for Transfusion-Dependent Thalassemia.
Thuret I, Ruggeri A, Angelucci E, Chabannon C
Stem cells translational medicine 2022; (11(4)):407-414 doi:10.1093/stcltm/szac007.
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Iron overload status in patients with non-transfusion-dependent thalassemia in China.
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2021 Thalassaemia International Federation Guidelines for the Management of Transfusion-dependent Thalassemia.
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HemaSphere 2022; (6(8)):e732 doi:10.1097/HS9.0000000000000732.
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Ocular manifestations in patients with transfusion-dependent β-thalassemia.
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Hippokratia 2021; (25(2)):79-82.
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Luspatercept for the treatment of anaemia in non-transfusion-dependent β-thalassaemia (BEYOND): a phase 2, randomised, double-blind, multicentre, placebo-controlled trial.
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The Lancet. Haematology 2022; (9(10)):e733-e744 doi:10.1016/S2352-3026(22)00208-3.
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Non-Transfusion-Dependent Thalassemia: A Panoramic Review.
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Medicina (Kaunas, Lithuania) 2022; (58(10)) doi:10.3390/medicina58101496.
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Whole exome sequencing and rare variant association study to identify genetic modifiers, KLF1 mutations, and a novel double mutation in Thai patients with hemoglobin E/beta-thalassemia.
Hantaweepant C, Suktitipat B, Pithukpakorn M, et al.
Hematology (Amsterdam, Netherlands) 2023; (28(1)):2187155 doi:10.1080/16078454.2023.2187155.
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Essential genetic modifiers and their measurable impact in a community-recruited population analysis for non-severe hemoglobin E/β-thalassemia prenatal genetic counseling.
Wong P, Chitsobhak T, Jittasathian S, et al.
Blood cells, molecules & diseases 2023; (103()):102765 doi:10.1016/j.bcmd.2023.102765.
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Case report: A novel 10.8-kb deletion identified in the β-globin gene through the long-read sequencing technology in a Chinese family with abnormal hemoglobin testing results.
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Frontiers in medicine 2023; (10()):1192279 doi:10.3389/fmed.2023.1192279.
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Clinico-Hematological Profile and Management of Children With Non-Transfusion Dependent Thalassemia (NTDT) at a Pediatric Center in Northern India.
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Indian pediatrics 2023; (60(8)):644-647.
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Characterization of pediatric transfusion-dependent thalassemia patients in a large academic center.
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Journal of clinical laboratory analysis 2023; (37(17-18)):e24962 doi:10.1002/jcla.24962.
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Spectrum of Adrenal Dysfunction in Hemoglobin E/Beta Thalassemia.
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The Journal of clinical endocrinology and metabolism 2024; (109(2)):e562-e568 doi:10.1210/clinem/dgad579.
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Molecular understanding of unusual HbE-β+-thalassemia with Hb phenotype similar to HbE heterozygote: simple and rapid differentiation using HbE levels.
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Annals of medicine 2023; (55(2)):2267054 doi:10.1080/07853890.2023.2267054.
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Molecular Characterization of Haemoglobin E.
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JPMA. The Journal of the Pakistan Medical Association 2023; (73(12)):2357-2362 doi:10.47391/JPMA.7138.
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Red blood cell indices in different hemoglobinopathies: A cross-sectional study in Eastern India.
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Indian journal of pathology & microbiology 2024; (67(1)):115-120 doi:10.4103/ijpm.ijpm_1071_21.
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Exagamglogene Autotemcel for Transfusion-Dependent β-Thalassemia.
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The New England journal of medicine 2024; (390(18)):1663-1676 doi:10.1056/NEJMoa2309673.
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Differential effects of iron chelators on iron burden and long-term morbidity and mortality outcomes in a large cohort of transfusion-dependent β-thalassemia patients who remained on the same monotherapy over 10 years.
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Blood cells, molecules & diseases 2024; (107()):102859 doi:10.1016/j.bcmd.2024.102859.
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Alpha globin gene alterations modifying the phenotype of homozygous beta thalassaemia.
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EJHaem 2024; (5(3)):440-446 doi:10.1002/jha2.923.
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Characterization and Clinical Assessment of a Peculiar Case of Hemolytic Anemia.
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Journal of hematology 2024; (13(3)):108-115 doi:10.14740/jh1204.
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Regulatory Assessment of Casgevy for the Treatment of Transfusion-Dependent β-Thalassemia and Sickle Cell Disease with Recurrent Vaso-Occlusive Crises.
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Current issues in molecular biology 2024; (46(8)):8209-8225 doi:10.3390/cimb46080485.
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Luspatercept: a treatment for ineffective erythropoiesis in thalassemia.
Musallam KM, Taher AT
Hematology. American Society of Hematology. Education Program 2024; (2024(1)):419-425 doi:10.1182/hematology.2024000567.
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Assessing the auditory effects of oral chelation therapy drug Deferasirox in individuals with β-thalassemia major.
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World journal of otorhinolaryngology - head and neck surgery 2024; (10(4)):309-314 doi:10.1002/wjo2.150.
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[Monitoring and interventions of growth disorders and endocrine function in children with transfusion-dependent thalassemia].
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Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2025; (27(4)):389-394 doi:10.7499/j.issn.1008-8830.2501080.
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Risk Stratification-Based Therapy for Children with E-beta Thalassemia: A 20-Year Follow-Up Study.
Ganesan K, Duraisamy S, Nair A, et al.
Indian pediatrics 2025; (62(7)):506-510 doi:10.1007/s13312-025-00089-3.
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Beyond the blood: A practical guide to thalassemia care in the emergency department.
Mufarrij A, Hodroj MH, Charbel N, et al.
Blood reviews 2025; (74()):101327 doi:10.1016/j.blre.2025.101327.
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Efficacy and safety of luspatercept in non-transfusion-dependent β-thalassemia: long-term results from the BEYOND study.
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Blood advances 2025; (9(23)):6108-6119 doi:10.1182/bloodadvances.2025016554.
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Gene Therapies for Hemoglobinopathies: Efficacy, Cell Collection & Transfusion Support.
Inam Z, Han H, Webb J, Delaney M
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