Thalassemias: from gene to therapy

The use of luspatercept for thalassemia in adults

(2021) Maria Domenica Cappellini et al.   Blood Advances

β-Thalassemias

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

Correction of β-thalassemia by CRISPR/Cas9 editing of the α-globin locus in human hematopoietic stem cells

(2021) Giulia Pavani et al.   Blood Advances

Comparison of efficacy and safety of thalidomide vs hydroxyurea in patients with Hb E-β thalassemia - a pilot study from a tertiary care Centre of India

(2021) Manisha Jain et al.   BLOOD CELLS MOLECULES AND DISEASES

Coordinated β-globin expression and α2-globin reduction in a multiplex lentiviral gene therapy vector for β-thalassemia

(2021) Tiwaporn Nualkaew et al.   MOLECULAR THERAPY

Gene replacement of α-globin with β-globin restores hemoglobin balance in β-thalassemia-derived hematopoietic stem and progenitor cells

(2021) M. Kyle Cromer et al.   NATURE MEDICINE

Sustained fetal hemoglobin induction in vivo is achieved by BCL11A interference and coexpressed truncated erythropoietin receptor

(2021) Naoya Uchida et al.   Science Translational Medicine

Drug Repurposing: Hydroxyurea Therapy Improves the Transfusion-Free Interval in HbE/Beta-Thalassemia—Major Patients with the XmnI Polymorphism

(2021) Debojoyti Ghosh et al.   Genetic Testing and Molecular Biomarkers

Hb Westmead (HBA2: c.369C>G): Hematological Characteristics in Heterozygotes with and without α0-Thalassemia

(2020) Fan Jiang et al.   HEMOGLOBIN

miR-30a regulates γ-globin expression in erythoid precursors of intermedia thalassemia through targeting BCL11A

(2020) Mohammad Ali Gholampour et al.   MOLECULAR BIOLOGY REPORTS

Treating sickle cell anemia

(2020) John F. Tisdale et al.   SCIENCE

Non-deletional alpha thalassaemia: a review

(2020) Ibrahim Kalle Kwaifa et al.   Orphanet Journal of Rare Diseases

A natural DNMT1 mutation elevates the fetal hemoglobin via epigenetic de-repression of γ-globin gene in β-thalassemia

(2020) Yi Gong et al.   BLOOD

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

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

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

(2019) Sarah Marktel et al.   NATURE MEDICINE

Gene therapy targeting haematopoietic stem cells for inherited diseases: progress and challenges

(2019) Marina Cavazzana et al.   NATURE REVIEWS DRUG DISCOVERY

Highly efficient therapeutic gene editing of human hematopoietic stem cells

(2019) Yuxuan Wu et al.   NATURE MEDICINE

Lentiviral and genome-editing strategies for the treatment of β-hemoglobinopathies

(2019) Elisa Magrin et al.   BLOOD

A Novel εγδβ-Thalassemia Deletion Associated with Severe Anemia at Birth and a β-Thalassemia Intermedia Phenotype Later in Life in Three Generations of a Greek Family

(2019) Alexandros Makis et al.   HEMOGLOBIN

Crystal structure of the ferric homotetrameric β 4 human hemoglobin

(2018) Lelio Mazzarella et al.   BIOPHYSICAL CHEMISTRY

Induction of fetal hemoglobin synthesis by CRISPR/Cas9-mediated editing of the human β-globin locus

(2018) Chiara Antoniani et al.   BLOOD

Globins, from Genes to Physiology and Diseases

(2018) Douglas Vernimmen   BLOOD CELLS MOLECULES AND DISEASES

miR-326 regulates HbF synthesis by targeting EKLF in human erythroid cells

(2018) Yihong Li et al.   EXPERIMENTAL HEMATOLOGY

Contrasting co-inheritance of alpha and beta mutations in delta beta thalassemia and hereditary persistence of fetal hemoglobin: a study from India

(2018) Hareram Pandey et al.   Hematology

Molecular Basis and Genetic Modifiers of Thalassemia

(2018) Sachith Mettananda et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

MRI for Iron Overload in Thalassemia

(2018) Juliano Lara Fernandes   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Clinical Classification, Screening and Diagnosis for Thalassemia

(2018) Vip Viprakasit et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

14q32 and let-7 microRNAs regulate transcriptional networks in fetal and adult human erythroblasts

(2018) Samuel Lessard et al.   HUMAN MOLECULAR GENETICS

Non-Transfusion-Dependent Thalassemia: An Update on Complications and Management

(2018) Joseph Sleiman et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Thalassaemia

(2018) Ali T Taher et al.   LANCET

Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A binding

(2018) Gabriella E. Martyn et al.   NATURE GENETICS

Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia

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

From Prenatal to Preimplantation Genetic Diagnosis of β-Thalassemia. Prevention Model in 8748 Cases: 40 Years of Single Center Experience

(2018) Giovanni Monni et al.   Journal of Clinical Medicine

Disruption of the BCL11A Erythroid Enhancer Reactivates Fetal Hemoglobin in Erythroid Cells of Patients with β-Thalassemia Major

(2018) Nikoletta Psatha et al.   Molecular Therapy-Methods & Clinical Development

Wake-up Sleepy Gene: Reactivating Fetal Globin for β-Hemoglobinopathies

(2018) Beeke Wienert et al.   TRENDS IN GENETICS

First Report of a Novel Deletion Due to εγδβ-Thalassemia in a Chinese Family

(2017) Annie S. Y. Hui et al.   HEMOGLOBIN

BCL11A mRNA Targeting by miR-210: A Possible Network Regulating γ-Globin Gene Expression

(2017) Jessica Gasparello et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Myeloproliferative Neoplasms

(2017) Jerry L. Spivak   NEW ENGLAND JOURNAL OF MEDICINE

β-thalassemia distribution in the old world: a historical standpoint of an ancient disease

(2017) Vincenzo De Sanctis   Mediterranean Journal of Hematology and Infectious Diseases

Investigation of mutations in the HBB gene using the 1,000 genomes database

(2017) Tânia Carlice-dos-Reis et al.   PLoS One

Original Research: Stable expression of miR-34a mediates fetal hemoglobin induction in K562 cells

(2016) Christina M Ward et al.   EXPERIMENTAL BIOLOGY AND MEDICINE

The LSD1 inhibitor RN-1 recapitulates the fetal pattern of hemoglobin synthesis in baboons (P. anubis)

(2016) A. Rivers et al.   HAEMATOLOGICA

Progress Toward the Control and Management of the Thalassemias

(2016) Suthat Fucharoen et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Cell and Gene Therapy for the Beta-Thalassemias: Advances and Prospects

(2016) Jorge Mansilla-Soto et al.   HUMAN GENE THERAPY

Hemoglobin genetics: recent contributions of GWAS and gene editing

(2016) Elenoe C. Smith et al.   HUMAN MOLECULAR GENETICS

A genome-editing strategy to treat β-hemoglobinopathies that recapitulates a mutation associated with a benign genetic condition

(2016) Elizabeth A Traxler et al.   NATURE MEDICINE

Transcription factors LRF and BCL11A independently repress expression of fetal hemoglobin

(2016) T. Masuda et al.   SCIENCE

The LSD1 inhibitor RN-1 recapitulates the fetal pattern of hemoglobin synthesis in baboons (P. anubis)

(2016) A. Rivers et al.   HAEMATOLOGICA

Thalassemia 2016: Modern medicine battles an ancient disease

(2015) Deborah Rund   AMERICAN JOURNAL OF HEMATOLOGY

Understanding α-globin gene regulation and implications for the treatment of β-thalassemia

(2015) Sachith Mettananda et al.   Annals of the New York Academy of Sciences

The LSD1 inhibitor RN-1 induces fetal hemoglobin synthesis and reduces disease pathology in sickle cell mice

(2015) S. Cui et al.   BLOOD

Inhibition of G9a methyltransferase stimulates fetal hemoglobin production by facilitating LCR/ -globin looping

(2015) I. Krivega et al.   BLOOD

EHMT1 and EHMT2 inhibition induces fetal hemoglobin expression

(2015) A. Renneville et al.   BLOOD

Estimating tissue iron burden: current status and future prospects

(2015) John C. Wood   BRITISH JOURNAL OF HAEMATOLOGY

 -thalassemias: paradigmatic diseases for scientific discoveries and development of innovative therapies

(2015) S. Rivella   HAEMATOLOGICA

Anemia: progress in molecular mechanisms and therapies

(2015) Vijay G Sankaran et al.   NATURE MEDICINE

Epigenetic regulation of fetal globin gene expression in adult erythroid cells

(2015) Gordon D. Ginder   Translational Research

 -thalassemias: paradigmatic diseases for scientific discoveries and development of innovative therapies

(2015) S. Rivella   HAEMATOLOGICA

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

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

Safe mobilization of CD34+ cells in adults with  -thalassemia and validation of effective globin gene transfer for clinical investigation

(2014) F. Boulad et al.   BLOOD

Reactivation of Developmentally Silenced Globin Genes by Forced Chromatin Looping

(2014) Wulan Deng et al.   CELL

Preclinical Evaluation of Efficacy and Safety of an Improved Lentiviral Vector for the Treatment of β-Thalassemia and Sickle Cell Disease

(2014) Olivier Negre et al.   CURRENT GENE THERAPY

Iron chelation

(2014) Sujit Sheth   CURRENT OPINION IN HEMATOLOGY

Detection of Hb Anti-Lepore Hong Kong (NG_000007.3: g.63154_70565dup) in Chinese Individuals

(2014) Ji-Wu Lou et al.   HEMOGLOBIN

Transforming growth factor-β superfamily ligand trap ACE-536 corrects anemia by promoting late-stage erythropoiesis

(2014) Rajasekhar N V S Suragani et al.   NATURE MEDICINE

The hematopoietic regulator TAL1 is required for chromatin looping between the β-globin LCR and human γ-globin genes to activate transcription

(2014) Won Ju Yun et al.   NUCLEIC ACIDS RESEARCH

Guidelines for Diagnosis and Management of Beta-Thalassemia Intermedia

(2014) Mehran Karimi et al.   PEDIATRIC HEMATOLOGY AND ONCOLOGY

Clinical experience with fetal hemoglobin induction therapy in patients with  -thalassemia

(2013) K. M. Musallam et al.   BLOOD

Detection of a Novel βδ-Globin Fusion Gene, Anti-Lepore Hb CHORI (βthrough IVS-I-57/δfrom IVS-I-101), by Multiplex Ligation-Dependent Probe Amplification

(2013) Jialing Cui et al.   HEMOGLOBIN

Reactivity of the human hemoglobin “Dark side”

(2013) Paolo Ascenzi et al.   IUBMB LIFE

Probing the Dynamic Distribution of Bound States for Methylcytosine-binding Domains on DNA

(2013) Jason M. Cramer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

MicroRNA-486-3p Regulates γ-Globin Expression in Human Erythroid Cells by Directly Modulating BCL11A

(2013) Valentina Lulli et al.   PLoS One

Corepressor-dependent silencing of fetal hemoglobin expression by BCL11A

(2013) J. Xu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level

(2013) D. E. Bauer et al.   SCIENCE

The Hemoglobin E Thalassemias

(2013) S. Fucharoen et al.   Cold Spring Harbor Perspectives in Medicine

Pathophysiology and Clinical Manifestations of the  -Thalassemias

(2013) A. W. Nienhuis et al.   Cold Spring Harbor Perspectives in Medicine

Classification of the Disorders of Hemoglobin

(2013) B. G. Forget et al.   Cold Spring Harbor Perspectives in Medicine

Development of a rapid multiplex PCR assay for identification of the three common Hemoglobin-Lepore variants (Boston-Washington, Baltimore, and Hollandia) and identification of a new Lepore variant

(2012) Roberto H. Nussenzveig et al.   AMERICAN JOURNAL OF HEMATOLOGY

Treatment strategies for hemoglobin E beta-thalassemia

(2012) Nancy F. Olivieri   BLOOD REVIEWS

A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia

(2012) Hanna Shalev et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Severe fetal and neonatal hemolytic anemia due to a 198 kb deletion removing the complete β-globin gene cluster

(2012) Madeleine Verhovsek et al.   PEDIATRIC BLOOD & CANCER

A search for β thalassemia mutations in 4000year old ancient DNAs of Minoan Cretans

(2011) Jeffery R. Hughey et al.   BLOOD CELLS MOLECULES AND DISEASES

Optimal management of β thalassaemia intermedia

(2011) Ali T. Taher et al.   BRITISH JOURNAL OF HAEMATOLOGY

Polycomb eviction as a new distant enhancer function

(2011) D. Vernimmen et al.   GENES & DEVELOPMENT

Beta-thalassemia: from genotype to phenotype

(2011) F. Danjou et al.   HAEMATOLOGICA

Thalassaemia

(2011) Douglas R Higgs et al.   LANCET

Nuclear Receptors TR2 and TR4 Recruit Multiple Epigenetic Transcriptional Corepressors That Associate Specifically with the Embryonic  -Type Globin Promoters in Differentiated Adult Erythroid Cells

(2011) S. Cui et al.   MOLECULAR AND CELLULAR BIOLOGY

Distribution of Lentiviral Vector Integration Sites in Mice Following Therapeutic Gene Transfer to Treat β-thalassemia

(2011) Keshet Ronen et al.   MOLECULAR THERAPY

A Functional Element Necessary for Fetal Hemoglobin Silencing

(2011) Vijay G. Sankaran et al.   NEW ENGLAND JOURNAL OF MEDICINE

MicroRNA-96 Directly Inhibits γ-Globin Expression in Human Erythropoiesis

(2011) Imane Azzouzi et al.   PLoS One

MicroRNA-15a and -16-1 act via MYB to elevate fetal hemoglobin expression in human trisomy 13

(2011) V. G. Sankaran et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

p66 -MBD2 coiled-coil interaction and recruitment of Mi-2 are critical for globin gene silencing by the MBD2-NuRD complex

(2011) M. N. Gnanapragasam et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hepcidin and Hfe in iron overload in β-thalassemia

(2010) Sara Gardenghi et al.   Annals of the New York Academy of Sciences

Strategy for a multicenter phase I clinical trial to evaluate globin gene transfer in β-thalassemia

(2010) Michel Sadelain et al.   Annals of the New York Academy of Sciences

Therapeutic levels of fetal hemoglobin in erythroid progeny of  -thalassemic CD34+ cells after lentiviral vector-mediated gene transfer

(2010) A. Wilber et al.   BLOOD

Identification of a PRMT5-dependent repressor complex linked to silencing of human fetal globin gene expression

(2010) G. Rank et al.   BLOOD

H4R3 methylation facilitates  -globin transcription by regulating histone acetyltransferase binding and H3 acetylation

(2010) X. Li et al.   BLOOD

Needle liver biopsy in thalassaemia: analyses of diagnostic accuracy and safety in 1184 consecutive biopsies

(2010) Emanuele Angelucci et al.   BRITISH JOURNAL OF HAEMATOLOGY

Association of Hb S/Hb lepore and δβ-thalassemia/Hb lepore in Sicilian patients: Review of the presence of Hb lepore in Sicily

(2010) E. Mirabile et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Transcriptional silencing of  -globin by BCL11A involves long-range interactions and cooperation with SOX6

(2010) J. Xu et al.   GENES & DEVELOPMENT

Mechanism of human Hb switching: a possible role of the kit receptor/miR 221-222 complex

(2010) M. Gabbianelli et al.   HAEMATOLOGICA

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

A transcriptome-wide approach reveals the key contribution of NFI-A in promoting erythroid differentiation of human CD34+ progenitors and CML cells

(2010) L M Starnes et al.   LEUKEMIA

Role of the GATA-1/FOG-1/NuRD Pathway in the Expression of Human  -Like Globin Genes

(2010) A. Miccio et al.   MOLECULAR AND CELLULAR BIOLOGY

Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia

(2010) Marina Cavazzana-Calvo et al.   NATURE

KLF1 regulates BCL11A expression and γ- to β-globin gene switching

(2010) Dewang Zhou et al.   NATURE GENETICS

α-thalassaemia

(2010) Cornelis L Harteveld et al.   Orphanet Journal of Rare Diseases

Beta-thalassemia

(2010) Renzo Galanello et al.   Orphanet Journal of Rare Diseases

Chromosome looping at the human  -globin locus is mediated via the major upstream regulatory element (HS -40)

(2009) D. Vernimmen et al.   BLOOD

NFI-A directs the fate of hematopoietic progenitors to the erythroid or granulocytic lineage and controls  -globin and G-CSF receptor expression

(2009) L. M. Starnes et al.   BLOOD

NuRD mediates activating and repressive functions of GATA-1 and FOG-1 during blood development

(2009) Annarita Miccio et al.   EMBO JOURNAL

A novel (    ) -thalassemia deletion associated with an   globin gene triplication leading to a severe transfusion dependant fetal thalassemic syndrome

(2009) C. Rose et al.   HAEMATOLOGICA

Severe intrauterine anemia: a new form of       thalassemia presenting in utero in a Norwegian family

(2009) A. Brantberg et al.   HAEMATOLOGICA

Friend of Prmt1, a Novel Chromatin Target of Protein Arginine Methyltransferases

(2009) T. B. van Dijk et al.   MOLECULAR AND CELLULAR BIOLOGY

PRMT5-mediated methylation of histone H4R3 recruits DNMT3A, coupling histone and DNA methylation in gene silencing

(2009) Quan Zhao et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Dual role for the methyltransferase G9a in the maintenance of  -globin gene transcription in adult erythroid cells

(2009) C.-P. Chaturvedi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hb H disease: clinical course and disease modifiers

(2009) S. Fucharoen et al.   Hematology-American Society of Hematology Education Program

A scoring system for the classification of β-thalassemia/Hb E disease severity

(2008) Orapan Sripichai et al.   AMERICAN JOURNAL OF HEMATOLOGY

Hemoglobin Kenya composed of α- and (Aγβ)-fusion-globin chains, associated with hereditary persistence of fetal hemoglobin

(2008) Ibifiri Wilcox et al.   AMERICAN JOURNAL OF HEMATOLOGY

Long-range regulation of ?? globin gene expression during erythropoiesis

(2008) Douglas R Higgs et al.   CURRENT OPINION IN HEMATOLOGY

Allogeneic stem cell transplantation for thalassemia major

(2008) E. Angelucci et al.   HAEMATOLOGICA

Hb Lepore-Leiden: A New δ/β Rearrangement Associated with a β-Thalassemia Minor Phenotype

(2008) Cornelis L. Harteveld et al.   HEMOGLOBIN

Epigenetic plasticity of chromatin in embryonic and hematopoietic stem/progenitor cells: therapeutic potential of cell reprogramming

(2008) G Zardo et al.   LEUKEMIA

In vivo selection of genetically modified erythroblastic progenitors leads to long-term correction of  -thalassemia

(2008) A. Miccio et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human Fetal Hemoglobin Expression Is Regulated by the Developmental Stage-Specific RepressorBCL11A

(2008) Vijay G. Sankaran et al.   SCIENCE