Thalassaemia

Etavopivat, a Pyruvate Kinase Activator in Red Blood Cells, for the Treatment of Sickle Cell Disease

(2022) Patricia Schroeder et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

Morbidity-free survival and hemoglobin level in non-transfusion-dependent β-thalassemia: a 10-year cohort study

(2021) Khaled M. Musallam et al.   ANNALS OF HEMATOLOGY

Variations in hemoglobin level and morbidity burden in non-transfusion-dependent β-thalassemia

(2021) Khaled M. Musallam et al.   ANNALS OF HEMATOLOGY

β-Thalassemias

(2021) Ali T. Taher et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rh alloimmunization in chronically transfused patients with thalassemia receiving RhD, C, E, and K matched transfusions

(2021) Sarah J. Waldis et al.   Blood Advances

Survival and causes of death in 2033 patients with non-transfusion-dependent β-thalassemia

(2021) Khaled M. Musallam et al.   HAEMATOLOGICA

Chromothripsis as an on-target consequence of CRISPR–Cas9 genome editing

(2021) Mitchell L. Leibowitz et al.   NATURE GENETICS

HSCT remains the only cure for patients with transfusion-dependent thalassemia until gene therapy strategies are proven to be safe

(2021) Christina Oikonomopoulou et al.   BONE MARROW TRANSPLANTATION

Efficacy and Safety of Thalidomide in Patients With Transfusion-Dependent Thalassemia

(2021) Jagdish Chandra et al.   INDIAN PEDIATRICS

Oral ferroportin inhibitor vamifeport for improving iron homeostasis and erythropoiesis in β-thalassemia: current evidence and future clinical development

(2021) John Porter et al.   Expert Review of Hematology

An urgent need for improving thalassemia care due to the wide gap in current real-life practice and clinical practice guidelines

(2021) Supachai Ekwattanakit et al.   Scientific Reports

Efficient CRISPR-Cas9-based genome editing of β-globin gene on erythroid cells from homozygous β039-thalassemia patients

(2021) Lucia Carmela Cosenza et al.   Molecular Therapy-Methods & Clinical Development

Advances in the management of α-thalassemia major: reasons to be optimistic

(2021) Paulina Horvei et al.   Hematology-American Society of Hematology Education Program

Hematopoietic Stem Cell Transplantation for Severe Thalassemia Patients from Haploidentical Donors Using a Novel Conditioning Regimen

(2020) Usanarat Anurathapan et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

The changing epidemiology of the ageing thalassaemia populations: A position statement of the Thalassaemia International Federation

(2020) Dimitrios Farmakis et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Cas9 activates the p53 pathway and selects for p53-inactivating mutations

(2020) Oana M. Enache et al.   NATURE GENETICS

A Phase 3 Trial of Luspatercept in Patients with Transfusion-Dependent β-Thalassemia

(2020) M. Domenica Cappellini et al.   NEW ENGLAND JOURNAL OF MEDICINE

Combined chelation with high-dose deferiprone and deferoxamine to improve survival and restore cardiac function effectively in patients with transfusion-dependent thalassemia presenting severe cardiac complications

(2020) Tzu-Yao Chuang et al.   ANNALS OF HEMATOLOGY

Observational study on the current status of thalassaemia in Malaysia: a report from the Malaysian Thalassaemia Registry

(2020) Hishamshah Mohd Ibrahim et al.   BMJ Open

Evaluation of the efficacy and safety of deferiprone compared with deferasirox in paediatric patients with transfusion-dependent haemoglobinopathies (DEEP-2): a multicentre, randomised, open-label, non-inferiority, phase 3 trial

(2020) Aurelio Maggio et al.   Lancet Haematology

Effects of the COVID-19 pandemic on supply and use of blood for transfusion

(2020) Simon J Stanworth et al.   Lancet Haematology

Myelodysplastic syndrome unrelated to lentiviral vector in a patient treated with gene therapy for sickle cell disease

(2020) Matthew M. Hsieh et al.   Blood Advances

Co‐morbidities and mortality associated with transfusion‐dependent beta‐thalassaemia in patients in England: a 10‐year retrospective cohort analysis

(2020) Minesh Jobanputra et al.   BRITISH JOURNAL OF HAEMATOLOGY

Changing patterns in the epidemiology of β‐thalassemia

(2020) Antonis Kattamis et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Revisiting the non‐transfusion‐dependent (NTDT) vs. transfusion‐dependent (TDT) thalassemia classification 10 years later

(2020) Khaled M. Musallam et al.   AMERICAN JOURNAL OF HEMATOLOGY

CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia

(2020) Haydar Frangoul et al.   NEW ENGLAND JOURNAL OF MEDICINE

Challenges in chronic transfusion for patients with thalassemia

(2020) Ashutosh Lal   Hematology-American Society of Hematology Education Program

Benserazide as a potential novel fetal hemoglobin inducer: an observational study in non-carriers of hemoglobin disorders

(2020) Marina Erê Hummel Pimenta Santos et al.   BLOOD CELLS MOLECULES AND DISEASES

Luspatercept improves hemoglobin levels and blood transfusion requirements in a study of patients with beta-thalassemia

(2019) Antonio Piga et al.   BLOOD

Intrabone hematopoietic stem cell gene therapy for adult and pediatric patients affected by transfusion-dependent ß-thalassemia

(2019) Sarah Marktel et al.   NATURE MEDICINE

Review of disease-related complications and management in adult patients with thalassemia: A multi-center study in Thailand

(2019) Suporn Chuncharunee et al.   PLoS One

Clinical and economic burden of regularly transfused adult patients with β‐thalassemia in the United States: A retrospective cohort study using payer claims

(2019) Mia Weiss et al.   AMERICAN JOURNAL OF HEMATOLOGY

Unrelated Donor Peripheral Blood Stem Cell Transplantation for Patients with β-Thalassemia Major Based on a Novel Conditioning Regimen

(2019) Lan Sun et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

Deferiprone exerts a dose‐dependent reduction of liver iron in adults with iron overload

(2019) Andrew Binding et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Estimating the burden of α-thalassaemia in Thailand using a comprehensive prevalence database for Southeast Asia

(2019) Carinna Hockham et al.   eLife

A novel, highly potent and selective phosphodiesterase-9 inhibitor for the treatment of sickle cell disease

(2019) James G. McArthur et al.   HAEMATOLOGICA

Challenges of blood transfusions in β-thalassemia

(2019) Farrukh T. Shah et al.   BLOOD REVIEWS

Amustaline‐glutathione pathogen‐reduced red blood cell concentrates for transfusion‐dependent thalassaemia

(2019) Yesim Aydinok et al.   BRITISH JOURNAL OF HAEMATOLOGY

HLA-haploidentical hematopoietic stem cell transplantation in pediatric patients with hemoglobinopathies: current practice and new approaches

(2019) Lena Oevermann et al.   BONE MARROW TRANSPLANTATION

Management of age-associated medical complications in patients with β-thalassemia

(2019) Irene Motta et al.   Expert Review of Hematology

Systematic literature review of the burden of disease and treatment for transfusion-dependent β-thalassemia

(2019) Marissa Betts et al.   CLINICAL THERAPEUTICS

Red cell alloimmunization in transfusion-dependent and transfusion-independent beta thalassemia: A review from the Eastern Mediterranean Region (EMRO)

(2019) Arwa Z. Al-Riyami et al.   TRANSFUSION AND APHERESIS SCIENCE

MRI for the diagnosis of cardiac and liver iron overload in patients with transfusion-dependent thalassemia: An algorithm to guide clinical use when availability is limited

(2018) Vip Viprakasit et al.   AMERICAN JOURNAL OF HEMATOLOGY

A prospective analysis for prevalence of complications in Thai nontransfusion-dependent Hb E/β-thalassemia and α-thalassemia (Hb H disease)

(2018) Supachai Ekwattanakit et al.   AMERICAN JOURNAL OF HEMATOLOGY

The effect of iron chelation therapy on overall survival in sickle cell disease and β-thalassemia: A systematic review

(2018) Samir K. Ballas et al.   AMERICAN JOURNAL OF HEMATOLOGY

What can we learn from ineffective erythropoiesis in thalassemia?

(2018) Paraskevi Rea Oikonomidou et al.   BLOOD REVIEWS

The Evolving Spectrum of the Epidemiology of Thalassemia

(2018) David J. Weatherall   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Thalassaemia

(2018) Ali T Taher et al.   LANCET

Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia

(2018) Alexis A. Thompson et al.   NEW ENGLAND JOURNAL OF MEDICINE

A National Registry of Thalassemia in Turkey: Demographic and Disease Characteristics of Patients, Achievements, and Challenges in Prevention

(2018) Yeşim Aydınok et al.   Turkish Journal of Hematology

National registry of hemoglobinopathies in Greece: updated demographics, current trends in affected births, and causes of mortality

(2018) Ersi Voskaridou et al.   ANNALS OF HEMATOLOGY

Iron metabolism under conditions of ineffective erythropoiesis in β-thalassemia

(2018) Stefano Rivella   BLOOD

Sotatercept, a novel transforming growth factor beta ligand trap, improves anemia in beta-thalassemia: a phase 2, open-label, dose-finding study

(2018) Maria Domenica Cappellini et al.   HAEMATOLOGICA

Blood transfusion safety in sub-Saharan Africa: A literature review of changes and challenges in the 21st century

(2018) A. Weimer et al.   TRANSFUSION

Prevalence, Incidence, Trend, and Complications of Thalassemia in Iraq

(2017) Kamal A. Kadhim et al.   HEMOGLOBIN

Prediction of cardiac complications for thalassemia major in the widespread cardiac magnetic resonance era: a prospective multicentre study by a multi-parametric approach

(2017) Alessia Pepe et al.   European Heart Journal-Cardiovascular Imaging

Morbidities in non-transfusion-dependent thalassemia

(2016) Antoine N. Saliba et al.   Annals of the New York Academy of Sciences

Regulation of the fetal hemoglobin silencing factor BCL11A

(2016) Anindita Basak et al.   Annals of the New York Academy of Sciences

Strict in vivo specificity of the Bcl11a erythroid enhancer

(2016) E. C. Smith et al.   BLOOD

Hemopoietic stem cell transplantation in thalassemia: a report from the European Society for Blood and Bone Marrow Transplantation Hemoglobinopathy Registry, 2000–2010

(2016) D Baronciani et al.   BONE MARROW TRANSPLANTATION

Cardiac iron load and function in transfused patients treated with deferasirox (the MILE study)

(2016) P. Joy Ho et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

The Italian multiregional thalassemia registry: Centers characteristics, services, and patients’ population†

(2016) Rosa Conte et al.   Hematology

Effect of Plasmodium inactivation in whole blood on the incidence of blood transfusion-transmitted malaria in endemic regions: the African Investigation of the Mirasol System (AIMS) randomised controlled trial

(2016) Jean-Pierre Allain et al.   LANCET

Survival and complication rates in patients with thalassemia major in Taiwan

(2016) Han-Ping Wu et al.   PEDIATRIC BLOOD & CANCER

Favorable outcomes afterin uterotransfusion in fetuses with alpha thalassemia major: a case series and review of the literature

(2016) Emily M. Kreger et al.   PRENATAL DIAGNOSIS

Healthcare costs and outcomes of managing β-thalassemia major over 50 years in the United Kingdom

(2016) Diana Weidlich et al.   TRANSFUSION

Donor-Specific Anti-HLA Antibodies in Allogeneic Hematopoietic Stem Cell Transplantation

(2016) Sarah Morin-Zorman et al.   Frontiers in Immunology

Prevalence and distribution of iron overload in patients with transfusion-dependent anemias differs across geographic regions: results from the CORDELIA study

(2015) Yesim Aydinok et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Efficacy and safety of a novel combination of two oral chelators deferasirox/deferiprone over deferoxamine/deferiprone in severely iron overloaded young beta thalassemia major patients

(2015) Mohsen S. Elalfy et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Combination of Tmprss6- ASO and the iron chelator deferiprone improves erythropoiesis and reduces iron overload in a mouse model of beta-thalassemia intermedia

(2015) C. Casu et al.   HAEMATOLOGICA

BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis

(2015) Matthew C. Canver et al.   NATURE

Risks associated with red blood cell transfusions: potential benefits from application of pathogen inactivation

(2015) Steve Kleinman et al.   TRANSFUSION

Combination of Tmprss6- ASO and the iron chelator deferiprone improves erythropoiesis and reduces iron overload in a mouse model of beta-thalassemia intermedia

(2015) C. Casu et al.   HAEMATOLOGICA

Integration of red cell genotyping into the blood supply chain: a population-based study

(2015) Willy A Flegel et al.   Lancet Haematology

Late-onset male hypogonadism and fertility potential in thalassemia major patients: Two emerging issues

(2015) Vincenzo De Sanctis   Mediterranean Journal of Hematology and Infectious Diseases

R2 and R2* are equally effective in evaluating chronic response to iron chelation

(2014) John C. Wood et al.   AMERICAN JOURNAL OF HEMATOLOGY

Modified activin receptor IIB ligand trap mitigates ineffective erythropoiesis and disease complications in murine  -thalassemia

(2014) R. N. V. S. Suragani et al.   BLOOD

A 1-year randomized controlled trial of deferasirox vs deferoxamine for myocardial iron removal in  -thalassemia major (CORDELIA)

(2014) D. J. Pennell et al.   BLOOD

Current approach to iron chelation in children

(2014) Yesim Aydinok et al.   BRITISH JOURNAL OF HAEMATOLOGY

EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies

(2014) Joanne Traeger-Synodinos et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

An activin receptor IIA ligand trap corrects ineffective erythropoiesis in β-thalassemia

(2014) Michael Dussiot et al.   NATURE MEDICINE

The α-Thalassemias

(2014) Frédéric B. Piel et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Economic Burden of Treating Thalassemia In Greece

(2014) M. Geitona et al.   VALUE IN HEALTH

Cardiovascular Function and Treatment in β-Thalassemia Major

(2013) Dudley J. Pennell et al.   CIRCULATION

Phenotypic expression of Hb F in common high Hb F determinants in Thailand: roles ofα-thalassemia, 5′ δ-globin BCL11A binding region and 3′ β-globin enhancer

(2013) Nattaphol Prakobkaew et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Therapeutic superiority and safety of combined hydroxyurea with recombinant human erythropoietin over hydroxyurea in young β-thalassemia intermedia patients

(2013) Mohsen S. Elalfy et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

An RNAi therapeutic targeting Tmprss6 decreases iron overload in Hfe-/- mice and ameliorates anemia and iron overload in murine  -thalassemia intermedia

(2012) P. J. Schmidt et al.   BLOOD

Chelation use and iron burden in North American and British thalassemia patients: a report from the Thalassemia Longitudinal Cohort

(2012) J. L. Kwiatkowski et al.   BLOOD

Combined chelation therapy with deferasirox and deferoxamine in thalassemia

(2012) Ashutosh Lal et al.   BLOOD CELLS MOLECULES AND DISEASES

The definition and epidemiology of non-transfusion-dependent thalassemia

(2012) David J. Weatherall   BLOOD REVIEWS

Challenges of alloimmunization in patients with haemoglobinopathies

(2012) Stella T. Chou et al.   BRITISH JOURNAL OF HAEMATOLOGY

Darbepoetin alfa for the treatment of anaemia in alpha- or beta- thalassaemia intermedia syndromes

(2011) Sylvia T. Singer et al.   BRITISH JOURNAL OF HAEMATOLOGY

Survival in a large cohort of Greek patients with transfusion-dependent beta thalassaemia and mortality ratios compared to the general population

(2011) Vassilis Ladis et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Thalassaemia

(2011) Douglas R Higgs et al.   LANCET

Stem cell gene therapy: the risks of insertional mutagenesis and approaches to minimize genotoxicity

(2011) Chuanfeng Wu et al.   Frontiers of Medicine

Adaptation to anemia in hemoglobin E-  thalassemia

(2010) A. Allen et al.   BLOOD

Hepcidin as a therapeutic tool to limit iron overload and improve anemia in β-thalassemic mice

(2010) Sara Gardenghi et al.   JOURNAL OF CLINICAL INVESTIGATION

Cardiac T2* Magnetic Resonance for Prediction of Cardiac Complications in Thalassemia Major

(2009) P. Kirk et al.   CIRCULATION

Complications and treatment of patients with  -thalassemia in France: results of the National Registry

(2009) I. Thuret et al.   HAEMATOLOGICA

Global epidemiology of haemoglobin disorders and derived service indicators

(2008) Bernadette Modell   BULLETIN OF THE WORLD HEALTH ORGANIZATION