Fetal hemoglobin regulation in β-thalassemia: heterogeneity, modifiers and therapeutic approaches

Kruppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants

(2016) A. Perkins et al.   BLOOD

Nine known and five novel mutations in the erythroid transcription factor KLF1 gene and phenotypic expression of fetal hemoglobin in hemoglobin E disorder

(2016) Wanicha Tepakhan et al.   BLOOD CELLS MOLECULES AND DISEASES

Variants of ZBTB7A (LRF) and its β-globin gene cluster binding motifs in sickle cell anemia

(2016) Elmutaz M. Shaikho et al.   BLOOD CELLS MOLECULES AND DISEASES

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

(2016) A. Rivers et al.   HAEMATOLOGICA

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

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

(2015) S. Cui et al.   BLOOD

RN-1, a potent and selective lysine-specific demethylase 1 inhibitor, increases γ-globin expression, F reticulocytes, and F cells in a sickle cell disease mouse model

(2015) Angela Rivers et al.   EXPERIMENTAL HEMATOLOGY

KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of  -thalassemia

(2014) D. Liu et al.   BLOOD

Variability of hemoglobin F expression in hemoglobin EE disease: Hematological and molecular analysis

(2014) Naruwat Pakdee et al.   BLOOD CELLS MOLECULES AND DISEASES

Reactivation of Developmentally Silenced Globin Genes by Forced Chromatin Looping

(2014) Wulan Deng et al.   CELL

Changes in hematological parameters in α-thalassemia individuals co-inherited with erythroid Krüppel-like factor mutations

(2014) L.-H. Yu et al.   CLINICAL GENETICS

Chromatin regulation: How complex does it get?

(2014) Karin Meier et al.   Epigenetics

Analysis of theXmn1-Gγ polymorphism in β-thalassemia/hemoglobin E (HbE) and homozygous HbE patients with low and high levels of HbF

(2014) W. Prasing et al.   International Journal of Laboratory Hematology

HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers

(2014) Ralph Stadhouders et al.   JOURNAL OF CLINICAL INVESTIGATION

IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology

(2014) Petros Kountouris et al.   PLoS One

Eukaryotic initiation factor 2  phosphorylation mediates fetal hemoglobin induction through a post-transcriptional mechanism

(2013) C. K. Hahn et al.   BLOOD

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

(2013) K. M. Musallam et al.   BLOOD

A randomized phase I/II trial of HQK-1001, an oral fetal globin gene inducer, in β-thalassaemia intermedia and HbE/β-thalassaemia

(2013) Suthat Fucharoen et al.   BRITISH JOURNAL OF HAEMATOLOGY

Disruption of the Hbs1l-Myb Locus Causes Hereditary Persistence of Fetal Hemoglobin in a Mouse Model

(2013) M. Suzuki et al.   MOLECULAR AND CELLULAR BIOLOGY

Lysine-specific demethylase 1 is a therapeutic target for fetal hemoglobin induction

(2013) Lihong Shi et al.   NATURE MEDICINE

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

Pathophysiology and Clinical Manifestations of the  -Thalassemias

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

Management of the Thalassemias

(2013) N. F. Olivieri et al.   Cold Spring Harbor Perspectives in Medicine

Molecular Analysis of the Rare In(Lu) Blood Type: Toward Decoding the Phenotypic Outcome of Haploinsufficiency for the Transcription Factor KLF1

(2012) Virginie Helias et al.   HUMAN MUTATION

Lysine-specific demethylase 1 restricts hematopoietic progenitor proliferation and is essential for terminal differentiation

(2012) A Sprüssel et al.   LEUKEMIA

A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression

(2011) J. J. Farrell et al.   BLOOD

KLF1 gene mutations cause borderline HbA2

(2011) L. Perseu et al.   BLOOD

A pilot study of subcutaneous decitabine in  -thalassemia intermedia

(2011) N. F. Olivieri et al.   BLOOD

Genotype and phenotype characterizations in a large cohort of β-thalassemia heterozygote with different forms of α-thalassemia in northeast Thailand

(2011) Supawadee Yamsri et al.   BLOOD CELLS MOLECULES AND DISEASES

Phenotypic expression of hemoglobins A2, E and F in various hemoglobin E related disorders

(2011) Nattaya Sae-ung et al.   BLOOD CELLS MOLECULES AND DISEASES

Molecular analysis of globin gene expression in different thalassaemia disorders: individual variation of βE pre-mRNA splicing determine disease severity

(2011) Alisa Tubsuwan et al.   BRITISH JOURNAL OF HAEMATOLOGY

Optimal management of β thalassaemia intermedia

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

Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin

(2011) S. Satta et al.   HAEMATOLOGICA

A Functional Element Necessary for Fetal Hemoglobin Silencing

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

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

Correction of Sickle Cell Disease in Adult Mice by Interference with Fetal Hemoglobin Silencing

(2011) J. Xu et al.   SCIENCE

A zinc-finger transcriptional activator designed to interact with the  -globin gene promoters enhances fetal hemoglobin production in primary human adult erythroblasts

(2010) A. Wilber et al.   BLOOD

The HDAC inhibitors trichostatin A and suberoylanilide hydroxamic acid exhibit multiple modalities of benefit for the vascular pathobiology of sickle transgenic mice

(2010) R. P. Hebbel et al.   BLOOD

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

(2010) A. Wilber et al.   BLOOD

Multiple functions of Ldb1 required for  -globin activation during erythroid differentiation

(2010) S.-H. Song et al.   BLOOD

Genetic modifiers of Hb E/β0 thalassemia identified by a two-stage genome-wide association study

(2010) Richard Sherva et al.   BMC Medical Genetics

Advances in the understanding of haemoglobin switching

(2010) Vijay G. Sankaran et al.   BRITISH JOURNAL OF HAEMATOLOGY

Paraspinal extramedullary hematopoiesis in patients with thalassemia intermedia

(2010) Rachid Haidar et al.   EUROPEAN SPINE JOURNAL

Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin

(2010) Joseph Borg et al.   NATURE GENETICS

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

(2010) Dewang Zhou et al.   NATURE GENETICS

Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation

(2010) Geneviève Galarneau et al.   NATURE GENETICS

Beta-thalassemia

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

Chemical genetic strategy identifies histone deacetylase 1 (HDAC1) and HDAC2 as therapeutic targets in sickle cell disease

(2010) James E. Bradner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Global burden, distribution and prevention of β-thalassemias and hemoglobin E disorders

(2010) Roshan Colah et al.   Expert Review of Hematology

Cytokine-mediated increases in fetal hemoglobin are associated with globin gene histone modification and transcription factor reprogramming

(2009) O. Sripichai et al.   BLOOD

Amelioration of Sardinian  0 thalassemia by genetic modifiers

(2009) R. Galanello et al.   BLOOD

Ineffective erythropoiesis and thalassemias

(2009) Stefano Rivella   CURRENT OPINION IN HEMATOLOGY

A genome-wide association identified the common genetic variants influence disease severity in β0-thalassemia/hemoglobin E

(2009) Manit Nuinoon et al.   HUMAN GENETICS

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

(2009) Santhi K Ganesh et al.   NATURE GENETICS

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

(2009) Nicole Soranzo et al.   NATURE GENETICS

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

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

BCL11A is a major HbF quantitative trait locus in three different populations with β-hemoglobinopathies

(2008) Amanda E. Sedgewick et al.   BLOOD CELLS MOLECULES AND DISEASES

Fetal haemoglobin response to hydroxycarbamide treatment and sar1a promoter polymorphisms in sickle cell anaemia

(2008) Chutima Kumkhaek et al.   BRITISH JOURNAL OF HAEMATOLOGY

A cell stress signaling model of fetal hemoglobin induction: what doesn't kill red blood cells may make them stronger

(2008) Rodwell Mabaera et al.   EXPERIMENTAL HEMATOLOGY

Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of  -thalassemia

(2008) M. Uda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DNA polymorphisms at the BCL11A, HBS1L-MYB, and  -globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

(2008) G. Lettre 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