A paradigm shift on beta-thalassaemia treatment: How will we manage this old disease with new therapies?

[1]  S. Rivella,et al.  Efficacy and safety of ruxolitinib in regularly transfused patients with thalassemia: results from a phase 2a study. , 2018, Blood.

[2]  S. Rivella,et al.  Short-term administration of JAK2 inhibitors reduces splenomegaly in mouse models of β-thalassemia intermedia and major , 2017, Haematologica.

[3]  E. Paolucci,et al.  Hydroxyurea for nontransfusion-dependent β-thalassemia: A systematic review and meta-analysis. , 2017, Hematology/oncology and stem cell therapy.

[4]  M. Ertem,et al.  Hematopoietic Stem Cell Transplantation Using Preimplantation Genetic Diagnosis and Human Leukocyte Antigen Typing for Human Leukocyte Antigen-Matched Sibling Donor: A Turkish Multicenter Study. , 2017, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

[5]  S. Rivella,et al.  Decreasing TfR1 expression reverses anemia and hepcidin suppression in β-thalassemic mice. , 2017, Blood.

[6]  N. Woolacott,et al.  A Review of Ruxolitinib for the Treatment of Myelofibrosis: A Critique of the Evidence , 2017, PharmacoEconomics.

[7]  S. Rivella,et al.  Developing a Galnac-Conjugated TMPRSS6 Antisense Therapy for the Treatment of β-Thalassemia , 2016 .

[8]  T. Cradick,et al.  Crispr/Cas9- Mediated Genome Editing of Human CD34+ Cells Upregulate Fetal Hemoglobin to Clinically Relevant Levels in Single Cell-Derived Erythroid Colonies , 2016 .

[9]  J. Rasko,et al.  Lentiglobin Gene Therapy for Transfusion-Dependent β-Thalassemia: Update from the Northstar Hgb-204 Phase 1/2 Clinical Study , 2016, Blood.

[10]  A. Piga,et al.  Luspatercept Increases Hemoglobin, Decreases Transfusion Burden and Improves Iron Overload in Adults with Beta-Thalassemia , 2016 .

[11]  S. Ritland,et al.  Pharmacokinetics and Exposure-Response of Luspatercept in Patients with Beta-Thalassemia: Preliminary Results from Phase 2 Studies , 2016 .

[12]  Chutima Kunacheewa,et al.  Matched sibling donor hematopoietic stem cell transplantation for thalassemia , 2016, Current opinion in hematology.

[13]  F. Locatelli,et al.  Transplantation for thalassemia major: alternative donors , 2016, Current opinion in hematology.

[14]  J. Sathar,et al.  Factors Affecting Quality of Life in Adult Patients with Thalassaemia Major and Intermedia. , 2016, Annals of the Academy of Medicine, Singapore.

[15]  D. Bachani,et al.  Thalassemia Major: how do we improve quality of life? , 2016, SpringerPlus.

[16]  V. Viprakasit,et al.  Hydroxyurea for reducing blood transfusion in non-transfusion dependent beta thalassaemias. , 2016, The Cochrane database of systematic reviews.

[17]  Shahira Elshafie,et al.  Study of red blood cell alloimmunization risk factors in multiply transfused thalassemia patients: role in improving thalassemia transfusion practice in Fayoum, Egypt , 2016, Transfusion.

[18]  M. Yaseri,et al.  Economic Burden of Thalassemia Major in Iran, 2015 , 2016, Journal of research in health sciences.

[19]  K. Bayanzay,et al.  Reducing the iron burden and improving survival in transfusion-dependent thalassemia patients: current perspectives , 2016, Journal of blood medicine.

[20]  S. Rivella,et al.  Minihepcidin peptides as disease modifiers in mice affected by β-thalassemia and polycythemia vera. , 2016, Blood.

[21]  Y. Wali,et al.  Impact of Burden of Thalassemia Major on Health-related Quality of Life in Omani Children , 2016, Journal of pediatric hematology/oncology.

[22]  P. Malik,et al.  The potential of gene therapy approaches for the treatment of hemoglobinopathies: achievements and challenges , 2016, Therapeutic advances in hematology.

[23]  S. Perrotta,et al.  LUSPATERCEPT DECREASES TRANSFUSION BURDEN AND LIVER IRON CONCENTRATION IN REGULARLY TRANSFUSED ADULTS WITH BETA-THALASSEMIA , 2016 .

[24]  J. Guest,et al.  Healthcare costs and outcomes of managing β‐thalassemia major over 50 years in the United Kingdom , 2016, Transfusion.

[25]  M. Cappellini,et al.  Laboratory diagnosis of thalassemia , 2016, International journal of laboratory hematology.

[26]  G. Kontoghiorghes,et al.  New developments and controversies in iron metabolism and iron chelation therapy. , 2016, World journal of methodology.

[27]  S. Rivella,et al.  Increased hepcidin in transferrin-treated thalassemic mice correlates with increased liver BMP2 expression and decreased hepatocyte ERK activation , 2016, Haematologica.

[28]  G. Kontoghiorghes,et al.  Efficacy and safety of iron-chelation therapy with deferoxamine, deferiprone, and deferasirox for the treatment of iron-loaded patients with non-transfusion-dependent thalassemia syndromes , 2016, Drug design, development and therapy.

[29]  F. Locatelli,et al.  Hemopoietic stem cell transplantation in thalassemia: a report from the European Society for Blood and Bone Marrow Transplantation Hemoglobinopathy Registry, 2000–2010 , 2016, Bone Marrow Transplantation.

[30]  M. Bhasin,et al.  Rap-536 (Murine ACE-536/Luspatercept) Inhibits Smad2/3 Signaling and Promotes Erythroid Differentiation By Restoring GATA-1 Function in Murine b-Thalassemia , 2015 .

[31]  Matthew C. Canver,et al.  miRNA-embedded shRNAs for Lineage-specific BCL11A Knockdown and Hemoglobin F Induction. , 2015, Molecular therapy : the journal of the American Society of Gene Therapy.

[32]  D. Pennell,et al.  Prevalence and distribution of iron overload in patients with transfusion‐dependent anemias differs across geographic regions: results from the CORDELIA study , 2015, European journal of haematology.

[33]  R. Klaassen,et al.  Thalassaemia in children: from quality of care to quality of life , 2015, Archives of Disease in Childhood.

[34]  M. Cappellini,et al.  Hemoglobin level and morbidity in non-transfusion-dependent thalassemia. , 2015, Blood cells, molecules & diseases.

[35]  Cappellini,et al.  INTERIM RESULTS FROM A PHASE 2A, OPEN-LABEL, DOSE-FINDING STUDY OF SOTATERCEPT (ACE-011) IN ADULT PATIENTS (PTS) WITH BETA-THALASSEMIA , 2015 .

[36]  S. Rivella β-thalassemias: paradigmatic diseases for scientific discoveries and development of innovative therapies , 2015, Haematologica.

[37]  D. Gómez-Almaguer,et al.  Cost structure and clinical outcome of a stem cell transplantation program in a developing country: the experience in northeast Mexico. , 2015, The oncologist.

[38]  D. Pennell,et al.  Sustained improvements in myocardial T2* over 2 years in severely iron‐overloaded patients with beta thalassemia major treated with deferasirox or deferoxamine , 2015, American journal of hematology.

[39]  M. Loh,et al.  Criteria for evaluating response and outcome in clinical trials for children with juvenile myelomonocytic leukemia , 2015, Haematologica.

[40]  V. Viprakasit,et al.  When to consider transfusion therapy for patients with non-transfusion-dependent thalassaemia , 2014, Vox sanguinis.

[41]  E. Cassinerio,et al.  Combination of deferasirox and deferoxamine in clinical practice: an alternative scheme of chelation in thalassemia major patients. , 2014, Blood cells, molecules & diseases.

[42]  N. Maniadakis,et al.  The cost of blood collection in Greece: an economic analysis. , 2014, Clinical therapeutics.

[43]  R. Petrova-Benedict,et al.  Haemoglobinopathies in Europe: health & migration policy perspectives , 2014, Orphanet Journal of Rare Diseases.

[44]  S. Rivella,et al.  Modified activin receptor IIB ligand trap mitigates ineffective erythropoiesis and disease complications in murine β-thalassemia. , 2014, Blood.

[45]  C Staikou,et al.  A narrative review of peri‐operative management of patients with thalassaemia , 2014, Anaesthesia.

[46]  I. Yaniv,et al.  Hematopoietic stem cell transplantation in thalassemia major and sickle cell disease: indications and management recommendations from an international expert panel , 2014, Haematologica.

[47]  I. Boyd,et al.  A phase 1 study of ACE-536, a regulator of erythroid differentiation, in healthy volunteers , 2014, American journal of hematology.

[48]  A. Grinberg,et al.  Transforming growth factor-β superfamily ligand trap ACE-536 corrects anemia by promoting late-stage erythropoiesis , 2014, Nature Medicine.

[49]  A. Fricot,et al.  An activin receptor IIA ligand trap corrects ineffective erythropoiesis in β-thalassemia , 2014, Nature Medicine.

[50]  R. Chopra,et al.  An activin receptor IIA ligand trap promotes erythropoiesis resulting in a rapid induction of red blood cells and haemoglobin , 2014, British journal of haematology.

[51]  M. Cappellini,et al.  Guidelines for the Management of Transfusion Dependent Thalassaemia (TDT) , 2014 .

[52]  S. Rivella,et al.  Intestinal HIF2α promotes tissue-iron accumulation in disorders of iron overload with anemia , 2013, Proceedings of the National Academy of Sciences.

[53]  Yijun Yang,et al.  Multiple‐dose, safety, pharmacokinetic, and pharmacodynamic study of sotatercept (ActRIIA‐IgG1), a novel erythropoietic agent, in healthy postmenopausal women , 2013, Journal of clinical pharmacology.

[54]  Matthew C. Canver,et al.  An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level , 2013, Science.

[55]  N. Woolacott,et al.  Ruxolitinib for the Treatment of Myelofibrosis: A NICE Single Technology Appraisal , 2013, PharmacoEconomics.

[56]  S. Rivella,et al.  Non-transfusion-dependent thalassemias , 2013, Haematologica.

[57]  S. Rivella,et al.  Reducing TMPRSS6 ameliorates hemochromatosis and β-thalassemia in mice. , 2013, The Journal of clinical investigation.

[58]  M. Cappellini,et al.  Clinical experience with fetal hemoglobin induction therapy in patients with β-thalassemia. , 2013, Blood.

[59]  T. Mendoza,et al.  Pain in thalassaemia: the effects of age on pain frequency and severity , 2013, British journal of haematology.

[60]  S. Milstein,et al.  An RNAi therapeutic targeting Tmprss6 decreases iron overload in Hfe(-/-) mice and ameliorates anemia and iron overload in murine β-thalassemia intermedia. , 2013, Blood.

[61]  S. Pakakasama,et al.  Cost utility analysis of reduced intensity hematopoietic stem cell transplantation in adolescence and young adult with severe thalassemia compared to hypertransfusion and iron chelation program , 2013, BMC Health Services Research.

[62]  Lei Zheng,et al.  Hemoglobinopathy: Molecular Epidemiological Characteristics and Health Effects on Hakka People in the Meizhou Region, Southern China , 2013, PloS one.

[63]  E. Vichinsky,et al.  Guidelines for the Management of Non Transfusion Dependent Thalassaemia (NTDT) , 2013 .

[64]  P. Mehta,et al.  Hematopoietic cell transplantation for thalassemia: a global perspective BMT tandem meeting 2013. , 2013, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

[65]  A. Nienhuis,et al.  Pathophysiology and Clinical Manifestations of the β-Thalassemias. , 2012, Cold Spring Harbor perspectives in medicine.

[66]  T. Coates,et al.  Treating thalassemia major-related iron overload: the role of deferiprone , 2012, Journal of blood medicine.

[67]  J. Karnon,et al.  Lifetime Cost-Utility Analyses of Deferasirox in Beta-Thalassaemia Patients with Chronic Iron Overload , 2012, Clinical Drug Investigation.

[68]  A. Attarbaschi,et al.  Costs and cost-effectiveness of allogeneic stem cell transplantation in children are predictable. , 2012, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

[69]  M. Akcan,et al.  Quality of Life Assessment in Hematopoietic Stem Cell Transplantation Performed on Thalassemia Major Patients , 2012, Pediatric hematology and oncology.

[70]  P. Bartels,et al.  Efficacy of advanced discriminating algorithms for screening on iron-deficiency anemia and β-thalassemia trait: a multicenter evaluation. , 2012, American journal of clinical pathology.

[71]  A. Taher,et al.  β-thalassemia intermedia: a clinical perspective. , 2012, Cold Spring Harbor perspectives in medicine.

[72]  C. Barbas,et al.  Induction of Fetal Hemoglobin In Vivo Mediated by a Synthetic γ-Globin Zinc Finger Activator , 2012, Anemia.

[73]  D. Pennell,et al.  Deferasirox for up to 3 years leads to continued improvement of myocardial T2* in patients with β-thalassemia major , 2012, Haematologica.

[74]  M. Lidonnici,et al.  Deletion of TMPRSS6 attenuates the phenotype in a mouse model of β-thalassemia. , 2012, Blood.

[75]  S. Rivella The role of ineffective erythropoiesis in non-transfusion-dependent thalassemia. , 2012, Blood reviews.

[76]  S. Rivella,et al.  Therapeutic Hemoglobin Levels after Gene Transfer in β-Thalassemia Mice and in Hematopoietic Cells of β-Thalassemia and Sickle Cells Disease Patients , 2012, PloS one.

[77]  G. Stamatoyannopoulos,et al.  Thalassaemia , 2012, The Lancet.

[78]  S. Bazargan-Hejazi,et al.  Evaluation and Cost Analysis of National Health Policy of Thalassaemia Screening in West-Azerbaijan Province of Iran , 2012, International journal of preventive medicine.

[79]  T. Delea,et al.  Cost Effectiveness of Once-Daily Oral Chelation Therapy with Deferasirox versus Infusional Deferoxamine in Transfusion-Dependent Thalassaemia Patients , 2012, PharmacoEconomics.

[80]  M. Cappellini,et al.  Risk factors for pulmonary hypertension in patients with β thalassemia intermedia. , 2011, European journal of internal medicine.

[81]  A. Tefferi,et al.  Serious adverse events during ruxolitinib treatment discontinuation in patients with myelofibrosis. , 2011, Mayo Clinic proceedings.

[82]  Elizabeta Nemeth,et al.  Minihepcidins are rationally designed small peptides that mimic hepcidin activity in mice and may be useful for the treatment of iron overload. , 2011, The Journal of clinical investigation.

[83]  D. Weatherall The challenge of haemoglobinopathies in resource‐poor countries , 2011, British journal of haematology.

[84]  M. Cappellini,et al.  Changing patterns of splenectomy in transfusion‐dependent thalassemia patients , 2011, American journal of hematology.

[85]  Suzanne Koussa,et al.  Health‐related quality of life in adults with transfusion‐independent thalassaemia intermedia compared to regularly transfused thalassaemia major: new insights , 2011, European journal of haematology.

[86]  F. Gonzalez,et al.  Hypoxia-inducible factor-2α mediates the adaptive increase of intestinal ferroportin during iron deficiency in mice. , 2011, Gastroenterology.

[87]  G. Collins,et al.  Prospective assessment of health-related quality of life in pediatric patients with beta-thalassemia following hematopoietic stem cell transplantation. , 2011, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

[88]  E. Neufeld,et al.  Red cell alloimmunization in a diverse population of transfused patients with thalassaemia , 2011, British journal of haematology.

[89]  Khaled M Musallam,et al.  Optimal management of β thalassaemia intermedia , 2011, British journal of haematology.

[90]  E. Neufeld Update on iron chelators in thalassemia. , 2010, Hematology. American Society of Hematology. Education Program.

[91]  S. Rivella,et al.  Hepcidin as a therapeutic tool to limit iron overload and improve anemia in β-thalassemic mice. , 2010, The Journal of clinical investigation.

[92]  Jérôme Larghero,et al.  Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia , 2010, Nature.

[93]  Khaled M Musallam,et al.  Redefining thalassemia as a hypercoagulable state , 2010, Annals of the New York Academy of Sciences.

[94]  Y. Lubell,et al.  A cost-utility and budget impact analysis of allogeneic hematopoietic stem cell transplantation for severe thalassemic patients in Thailand , 2010, BMC health services research.

[95]  D. Weatherall The inherited diseases of hemoglobin are an emerging global health burden. , 2010, Blood.

[96]  Raffaella Origa,et al.  BETA THALASSEMIA , 2018, The Professional Medical Journal.

[97]  S. Rivella,et al.  β-Thalassemia: HiJAKing Ineffective Erythropoiesis and Iron Overload , 2010, Advances in hematology.

[98]  M. Cappellini,et al.  Overview on practices in thalassemia intermedia management aiming for lowering complication rates across a region of endemicity: the OPTIMAL CARE study. , 2010, Blood.

[99]  Charles B. Hall,et al.  Transferrin therapy ameliorates disease in β-thalassemic mice , 2010, Nature Medicine.

[100]  K. Indaratna,et al.  Factors affecting health-related quality of life in Thai children with thalassemia , 2010, BMC blood disorders.

[101]  P. Cianciulli Mediterranean Journal of Hematology and Infectious Diseases Iron Chelation Therapy I , 2009 .

[102]  T. Peto,et al.  Interaction of malaria with a common form of severe thalassemia in an Asian population , 2009, Proceedings of the National Academy of Sciences.

[103]  Jinhyun Kim,et al.  A time-cost augmented economic evaluation of oral deferasirox versus infusional deferoxamine [corrected] for patients with iron overload in South Korea. , 2009, Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research.

[104]  V. Viprakasit,et al.  Iron chelation therapy in the management of thalassemia: the Asian perspectives , 2009, International journal of hematology.

[105]  S. Karlsson,et al.  Complex and Context Dependent Regulation of Hematopoiesis by TGF‐β Superfamily Signaling , 2009, Annals of the New York Academy of Sciences.

[106]  Yijun Yang,et al.  Single‐Dose, Randomized, Double‐Blind, Placebo‐Controlled Study of ACE‐011 (ActRIIA‐IgG1) in Postmenopausal Women , 2009, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[107]  T. Walley,et al.  Deferasirox for the treatment of iron overload associated with regular blood transfusions (transfusional haemosiderosis) in patients suffering with chronic anaemia: a systematic review and economic evaluation. , 2009, Health technology assessment.

[108]  J. Wood Cardiac iron across different transfusion-dependent diseases. , 2008, Blood reviews.

[109]  S. Rivella,et al.  Decreased differentiation of erythroid cells exacerbates ineffective erythropoiesis in beta-thalassemia. , 2008, Blood.

[110]  Y. Lau,et al.  Quality of life in patients with transfusion-dependent thalassemia after hematopoietic SCT , 2008, Bone Marrow Transplantation.

[111]  Matthew Darlison,et al.  Global epidemiology of haemoglobin disorders and derived service indicators. , 2008, Bulletin of the World Health Organization.

[112]  L. Mantovani,et al.  Costs, quality of life, treatment satisfaction and compliance in patients with β-thalassemia major undergoing iron chelation therapy: the ITHACA study , 2008, Current medical research and opinion.

[113]  S. Thein Genetic modifiers of the β‐haemoglobinopathies , 2008, British journal of haematology.

[114]  D. Weatherall Genetic variation and susceptibility to infection: the red cell and malaria , 2008, British journal of haematology.

[115]  M. Cunningham,et al.  Update on thalassemia: clinical care and complications. , 2008, Pediatric clinics of North America.

[116]  P. Fountouli,et al.  Factors that motivate and hinder blood donation in Greece , 2007, Transfusion medicine.

[117]  T. Delea,et al.  Consequences and costs of noncompliance with iron chelation therapy in patients with transfusion‐dependent thalassemia: a literature review , 2007, Transfusion.

[118]  A. Aessopos,et al.  Thalassemia intermedia today: should patients regularly receive transfusions? , 2007, Transfusion.

[119]  Yi Fang Liu,et al.  Ineffective erythropoiesis in beta-thalassemia is characterized by increased iron absorption mediated by down-regulation of hepcidin and up-regulation of ferroportin. , 2006, Blood.

[120]  Meng-Yao Lu,et al.  Financial burden of national health insurance for treating patients with transfusion-dependent thalassemia in Taiwan , 2006, Bone Marrow Transplantation.

[121]  P. Andreou,et al.  Quality of Life in Thalassemia , 2005, Annals of the New York Academy of Sciences.

[122]  E. Rachmilewitz,et al.  MEDICAL PROGRESS : β-thalassemia , 2005 .

[123]  M. Weiss,et al.  Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia. , 2004, Blood.

[124]  J. Tsiantis,et al.  Brief report: Depressive symptoms and quality of life in adolescents with b-thalassaemia. , 2004, Journal of adolescence.

[125]  A. Cnaan,et al.  Survival and complications in patients with thalassemia major treated with transfusion and deferoxamine. , 2004, Haematologica.

[126]  S. Rivella,et al.  A novel murine model of Cooley anemia and its rescue by lentiviral-mediated human beta-globin gene transfer. , 2003, Blood.

[127]  S. P. Oh,et al.  Activin type IIA and IIB receptors mediate Gdf11 signaling in axial vertebral patterning. , 2002, Genes & development.

[128]  Gaël Nicolas,et al.  The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation. , 2002, The Journal of clinical investigation.

[129]  J. Caro,et al.  Impact of Thalassemia major on Patients and Their Families , 2002, Acta Haematologica.

[130]  S. Rivella,et al.  Successful treatment of murine β-thalassemia intermedia by transfer of the human β-globin gene , 2002 .

[131]  S. Rivella,et al.  Successful treatment of murine beta-thalassemia intermedia by transfer of the human beta-globin gene. , 2002, Blood.

[132]  J. Porter Deferoxamine pharmacokinetics. , 2001, Seminars in hematology.

[133]  D J Weatherall,et al.  Inherited haemoglobin disorders: an increasing global health problem. , 2001, Bulletin of the World Health Organization.

[134]  Michel Sadelain,et al.  Therapeutic haemoglobin synthesis in β-thalassaemic mice expressing lentivirus-encoded human β-globin , 2000, Nature.

[135]  N. Olivieri,et al.  Thalassaemia in Sri Lanka: implications for the future health burden of Asian populations , 2000, The Lancet.

[136]  M. Cazzola,et al.  A moderate transfusion regimen may reduce iron loading in beta‐ thalassemia major without producing excessive expansion of erythropoiesis , 1997, Transfusion.

[137]  C. McLaren,et al.  Efficacy of deferoxamine in preventing complications of iron overload in patients with thalassemia major. , 1994, The New England journal of medicine.

[138]  M. Freedman,et al.  Effect of age at the start of iron chelation therapy on gonadal function in beta-thalassemia major. , 1990, The New England journal of medicine.

[139]  J. Peristeri,et al.  Red Cell Alloantibodies in Patients with Thalassemia , 1990, Vox sanguinis.

[140]  A. Karaklis,et al.  Alloimmunization to Red Cell Antigens in Thalassemia: Comparative Study of Usual versus Better‐Match Transfusion Programmes , 1987, Vox sanguinis.