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Feasibility of nonselective testing for hemoglobinopathies in early pregnancy in The Netherlands
miRNA therapeutics: delivery and biological activity of peptide nucleic acids targeting miRNAs
Generation and characterization of erythroid cells from human embryonic stem cells and induced pluripotent stem cells: an overview
Distinct Ldb1/NLI complexes orchestrate γ-globin repression and reactivation through ETO2 in human adult erythroid cells
Modulation of the Biological Activity of microRNA-210 with Peptide Nucleic Acids (PNAs)
The inactivation of the π gene in chicken erythroblasts of adult lineage is not mediated by packaging of the embryonic part of the α-globin gene domain into a repressive heterochromatin-like structure
Screening u.s. College athletes for their sickle cell disease carrier status
Concerted global effort to combat sickle cell disease the first global congress on sickle cell disease in accra, ghana
Adhesion molecules and high-sensitivity C-reactive protein levels in patients with sickle cell beta-thalassaemia
Epigenetic and molecular profiles of erythroid cells after hydroxyurea treatment in sickle cell anemia
Invasive & non-invasive approaches for prenatal diagnosis of haemoglobinopathies: Experiences from India
Cytokine-Induced Apoptosis of Beta-Thalassemia/Hemoglobin E Erythroid Progenitor Cells via Nitric Oxide-Mediated Process in vitro
Haemoglobinopathies in Greece: Prevention programme over the past 35 years
A well-designed online transfusion reaction reporting system improves the estimation of transfusion reaction incidence and quality of care in transfusion practice
Use of deferiprone for iron chelation in patients with transfusion-dependent thalassaemia
Use of deferiprone for iron chelation in patients with transfusion-dependent thalassaemia
Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing
The challenges of adherence and persistence with iron chelation therapy
Mutagen-Specific Mutation Signature Determines Global microRNA Binding
Levels of growth differentiation factor-15 are high and correlate with clinical severity in transfusion-independent patients with β thalassemia intermedia.
[Improved hybridization probe methods for genetic analysis of beta-thalassemia]
Forced TR2/TR4 expression in sickle cell disease mice confers enhanced fetal hemoglobin synthesis and alleviated disease phenotypes
Accounting for Artifactually Elevated HbA2 in Cases of Hb Hope When Measured by Capillary Electrophoresis
Haemoglobinopathies in southeast Asia
The proinflammatory cytokine GM-CSF downregulates fetal hemoglobin expression by attenuating the cAMP-dependent pathway in sickle cell disease
Past, present & future scenario of thalassaemic care & control in India
Abnormal haemoglobins: Detection & characterization.
FI_BloodProof of principle for transfusion of in vitro-generated red blood cells.
FI_Pediatric_ReportsRecent advances in β-thalassemias.
FI_The_LancetThalassaemia.
FI_BloodHow I treat thalassemia.
Response of iron overload to deferasirox in rare transfusion-dependent anaemias: equivalent effects on serum ferritin and labile plasma iron for haemolytic or production anaemias
Echocardiographic markers of elevated pulmonary pressure and left ventricular diastolic dysfunction are associated with exercise intolerance in adults and adolescents with homozygous sickle cell anemia in the United States and United Kingdom
Thalassemia-like Phenotype in a Novel Complex Hemoglobinopathy With α, β, δ Globin Chain Abnormalities
Alterations in cell maturity and serum survival factors may modulate neutrophil numbers in sickle cell disease
The complex transcription regulatory landscape of our genome: control in three dimensions
Eliminating cells gone astray
T cell-depleted hla-haploidentical stem cell transplantation in thalassemia young patients
Pharmacokinetics, pharmacodynamics, and pharmacogenetics of hydroxyurea treatment for children with sickle cell anemia
Thalassemia-like Phenotype in a Novel Complex Hemoglobinopathy With α, β, δ Globin Chain Abnormalities
Ontogeny stage-independent and high-level clonal expansion in vitro of mouse hematopoietic stem cells stimulated by an engineered NUP98-HOX fusion transcription factor
{beta}-thalassemia: a model for elucidating the dynamic regulation of ineffective erythropoiesis and iron metabolism
TMPRSS6 rs855791 modulates hepcidin transcription in vitro and serum hepcidin levels in normal individuals
Production of embryonic and fetal-like red blood cells from human induced pluripotent stem cells
KLF1 gene mutations cause borderline HbA2
Recent patents on therapeutic applications of the transcription factor decoy approach
MicroRNAs: Allies or Foes in erythropoiesis?
Zfp281 functions as a transcriptional repressor for pluripotency of mouse embryonic stem cells
Hepatitis C virus distribution and clearance following interferon-monotherapy among thalassaemia major and intermedia patients
[Application of SNP array method in prenatal diagnosis]
In Silico Analysis of Single Nucleotide Polymorphism (SNPs) in Human β-Globin Gene
Evaluation of Hepatic Iron Overload in Chinese Children With β-Thalassemia Major
Pulmonary hypertension in sickle cell disease
Reliable Detection of Paternal SNPs within Deletion Breakpoints for Non-Invasive Prenatal Exclusion of Homozygous α-Thalassemia in Maternal Plasma
Hemoglobin Lepore EF Bart’s disease: a molecular, hematological, and diagnostic aspects
Targeting microRNAs involved in human diseases: A novel approach for modification of gene expression and drug development
Distribution and shedding of the membrane phosphatidylserine during maturation and aging of erythroid cells
Erythroblast enucleation
Acquired alpha thalassemia myelodyslastic/myeloproliferative syndrome (ATMDS): Evolution on hypomethylating agent therapy.
The β-globin promoter -71 C>T mutation is a β+ thalassemic allele
MYH9 and APOL1 are both associated with sickle cell disease nephropathy.
Portacaths are safe for long-term regular blood transfusion in children with sickle cell anaem
Dynamics of the epigenetic landscape during erythroid differentiation after GATA1 restoration
Iron chelation therapy in thalassemia major: A systematic review with meta-analyses of 1520 patients included on randomized clinical trials
TNF-alpha and IL-8: Serum levels and gene polymorphisms (-308G>A and -251A>T) are associated with classical biomarkers and medical history in children with sickle cell anemia
Increased oxidative metabolism is associated with erythroid precursor expansion in β(0)-thalassaemia/Hb E disease
Alloimmunization to red cells in thalassemics: Emerging problem and future strategies
Reliable Detection of Paternal SNPs within Deletion Breakpoints for Non-Invasive Prenatal Exclusion of Homozygous α-Thalassemia in Maternal Plasma
Hemoglobin Lepore EF Bart’s disease: a molecular, hematological, and diagnostic aspects
The Diagnosis of α-Thalassaemia: A Case of Hemoglobin H -α Deletion
Hematopoietic stem cell transplantation for people with ß-thalassaemia major
Strategies to optimize the outcome of children given T-cell depleted HLA-haploidentical hematopoietic stem cell transplantation
Mechanisms of Slower Nitric Oxide Uptake by Red Blood Cells and Other Hemoglobin-containing Vesicles
Evaluation of myocardial iron overload using cardiovascular magnetic resonance imaging
Transient receptor potential vanilloid 1 mediates pain in mice with severe sickle cell disease
Reproductive capacity in iron overloaded women with thalassemia major
Mortality and causes of death in children with sickle cell disease in the Netherlands, before the introduction of neonatal screening
Changing pattern of hospital admissions of children with sickle cell disease over the last 50 years
Achieving treatment goals of reducing or maintaining body iron burden with deferasirox in patients with β-thalassaemia: results from the ESCALATOR study
Importance of optimal dosing ≥30 mg/kg/d during deferasirox treatment: 2.7-yr follow-up from the ESCALATOR study in patients with β-thalassaemia
Peripheral vasoconstriction and abnormal parasympathetic response to sighs and transient hypoxia in sickle cell disease
How I treat thalassemia
Mutational spectrum of thalassemias in India
Reproductive capacity in iron overloaded women with thalassemia major
Mortality and causes of death in children with sickle cell disease in the Netherlands, before the introduction of neonatal screening
Long-term safety and efficacy of deferasirox (Exjade) for up to 5 years in transfusional iron-overloaded patients with sickle cell disease
Urgency of emergency department visits by children with sickle cell disease: a comparison of 3 chronic conditions
The DNA binding factor Hmg20b is a repressor of erythroid differentiation
Absolute Quantification of the Alleles in Somatic Point Mutations by Bioluminometric Methods based on Competitive Polymerase Chain Reaction in the Presence of a Locked Nucleic Acid Blocker or an Allele-Specific Primer
A functional element necessary for fetal hemoglobin silencing
Progress in understanding the hemoglobin switch
Generation of transgene-free human induced pluripotent stem cells with an excisable single polycistronic vector
Chronic IFN-{gamma} production in mice induces anemia by reducing erythrocyte life span and inhibiting erythropoiesis through an IRF-1/PU.1 axis
Derivation of genetically modified human pluripotent stem cells with integrated transgenes at unique mapped genomic sites
Hemoglobinopathies: clinical manifestations, diagnosis, and treatment
In vitro and in vivo properties of distinct populations of amniotic fluid mesenchymal progenitor cells
Fok-I Polymorphism of Vitamin D Receptor Gene and the Presence of Renal Dysfunction in Patients with β-Thalassemia Major
Late MRD response determines relapse risk overall and in subsets of childhood T-cell ALL: results of the AIEOP-BFM-ALL 2000 study
Successful chelation therapy with the combination of deferasirox and deferiprone in a patient with thalassaemia major and persisting severe iron overload after single-agent chelation therapies
Chelation treatment in sickle-cell-anaemia: much ado about nothing?
Marked impact of IL28B genotype in the natural clearance of hepatitis C virus in patients with haemoglobinopathies
Evidence for a proatherogenic biochemical phenotype in Beta thalassemia minor and intermedia
Molecular analysis of globin gene expression in different thalassaemia disorders: individual variation of β(E) pre-mRNA splicing determine disease severity
Changing patterns of splenectomy in transfusion-dependent thalassemia patients
Cross-sectional study of pulmonary function and MRI-derived liver and myocardial iron content in young patients with β-thalassemia major
Effect of deferiprone or deferoxamine on right ventricular function in thalassemia major patients with myocardial iron overload
Pancreatic exocrine function and cardiac iron in patients with iron overload and with thalassemia
Comparison Between Capillary Electrophoresis and High Performance Liquid Chromatography for Detection and Quantification of Hb Constant Spring [Hb CS; α142, Term→Gln (TAA>CAA IN α2)]
Pomalidomide augments fetal hemoglobin production without the myelosuppressive effects of hydroxyurea in transgenic sickle cell mice
Sickle Cell/β(0)-Thalassemia Associated With the 1393 bp Deletion Can be Associated With a Severe Phenotype
A Novel Deletion/Insertion Caused by a Replication Error in the β-Globin Gene Locus Control Region
Switching globin, raising red cells
Iron chelation with deferasirox in adult and pediatric patients with thalassemia major: efficacy and safety during 5 years’ follow-up
Nuclear Receptors TR2 and TR4 Recruit Multiple Epigenetic Transcriptional Corepressors That Associate Specifically with the Embryonic {beta}-Type Globin Promoters in Differentiated Adult Erythroid Cells
Unexpected myocarditis in thalassaemia major patient screened for iron load cardiomyopathy.
Population pharmacokinetics and pharmacodynamics of hydroxyurea in sickle cell anemia patients, a basis for optimizing the dosing regimen.
Interference of Hemoglobin Hope on {beta}-Thalassemia Diagnosis by the Capillary Electrophoresis Method.
Presumptive diagnosis of common haemoglobinopathies in Southeast Asia using a capillary electrophoresis system.
Disturbances of Biomarkers of Iron and Oxidant-Antioxidant Homeostasis in Patients with beta-Thalassemia Intermedia.
Pathophysiology of Beta thalassaemia.
The multifactorial origin of growth failure in thalassaemia.
Complex interaction of hemoglobin (Hb) Nakhon Ratchasima [α63(E12)Ala→Val], a novel α2-globin chain variant with Hb E [β26(B8)Glu→Lys] and a deletional α(+) -thalassemia.
Health-related quality of life in adults with transfusion-independent thalassaemia intermedia compared to regularly transfused thalassaemia major: new insights.
Growth Hormone and Adrenal Response to Intramuscular Glucagon Test and Its Relationship to IGF-1 Production and Left Ventricular Ejection Fraction in Adult B-Thalassemia Major Patients.
Glomerular hyperfiltration and albuminuria in children with sickle cell anemia.
Bone disease in thalassaemia major: recent advances in pathogenesis and clinical aspects.
Β-thalassemia and thyroid failure: is there a role for thyroid autoimmunity?
Impact of magnetic resonance imaging on cardiac mortality in thalassemia major.
Abnormal seminal parameters in patients with thalassemia intermedia and low serum folate levels.
Papillary thyroid cancer in thalassaemia.
Myocardial iron loading in patients with thalassemia major in Turkey and the potential role of splenectomy in myocardial siderosis.
Adrenal incidentaloma in thalassemia: a case report and literature review.
Case report: thalassemia intermedia patient with hypertension non-responsive to combined medical treatment.
Paraplegia in a thalassaemic patient with short stature.
[Molecular characterization of two new mutations of α° thalassemia in two Spanish families (mutation --(ED) and --(GP))].
Darbepoetin alfa for the treatment of anaemia in alpha- or beta- thalassaemia intermedia syndromes.
Generation of bivalent chromatin domains during cell fate decisions.
The management of iron chelation therapy: preliminary data from a national registry of thalassaemic patients.
Comparison of the region-based and pixel-wise methods for cardiac T2* analysis in 50 transfusion-dependent Thai thalassemia patients.
A hemodynamic study of pulmonary hypertension in sickle cell disease.
Fetal hemoglobin in sickle cell anemia.
Diagnosis of Beta-thalassaemia carriers in the sultanate of oman.
Placental microparticles, DNA, and RNA in preeclampsia.
Impaired bone formation and osteopenia in heterozygous β(IVSII-654) knockin thalassemic mice.
Evaluation of safety and pharmacokinetics of sodium 2,2 dimethylbutyrate, a novel short chain Fatty Acid derivative, in a phase 1, double-blind, placebo-controlled, single-dose, and repeat-dose studies in healthy volunteers.
Recent advances in β-thalassemias.
Detection of α-thalassemia-1 Southeast Asian and Thai Type Deletions and β-thalassemia 3.5-kb Deletion by Single-tube Multiplex Real-time PCR with SYBR Green1 and High-resolution Melting Analysis.
The effects of hydroxycarbamide and magnesium on haemoglobin SC disease: results of the multi-centre CHAMPS trial.
Involvement of phosphatases in proliferation, maturation, and hemoglobinization of developing erythroid cells.
Blood transfusion usage among adults with sickle cell disease – a single institution experience over ten years
Transcriptional regulation and pharmacogenomics
Ancestry of African Americans with sickle cell disease
Hb H disease resulting from the association of an a-thalassemia allele [-(a)] with an unstable a-globin variant [Hb Icaria]: First report on the occurrence in Brazil
A record of 1320 suspect, deferasirox-related, patient deaths reported in 2009: insufficient toxicity testing, low efficacy and lack of transparency may endanger the lives of iron loaded patients.
Efficacy, compliance and toxicity factors are affecting the rate of normalization of body iron stores in thalassemia patients using the deferiprone and deferoxamine combination therapy.
Sequential alternating deferiprone and deferoxamine treatment compared to deferiprone monotherapy: main findings and clinical follow-up of a large multicenter randomized clinical trial in -thalassemia major patients.
Molecular lesion frequency of hemoglobin gene disorders in taiwan.
Genetic Analysis in Translational Medicine: The 2010 GOLDEN HELIX Symposium.
Endocrine histology findings in a prepubertal thalassemic girl with multiple endocrine complications secondary to iron overload.
3-years experience review of neonatal screening for hemoglobin disorders using tandem mass spectrometry.
Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.
Characterization of low bone mass in young patients with thalassemia by DXA, pQCT and markers of bone turnover
Hydroxycarbamide in very young children with sickle-cell anaemia: a multicentre, randomised, controlled trial (BABY HUG)
Anemia, Iron Deficiency and Thalassemia among Adolescents in Northeast Thailand: Results from Two Independent Surveys
A Case of Well-Tolerated and Safe Deferasirox Administration during the First Trimester of a Spontaneous Pregnancy in an Advanced Maternal Age Thalassemic Patient
Severity ranking of non-deletional alpha thalassemic alleles: insights from an Omani family study
Rapid and reliable ß-globin gene cluster haplotyping of sickle cell disease patients by FRET Light Cycler and HRM assays
Pregnant women affected by thalassemia major: a controlled study of traits and personality
A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression
Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin
Serum lipid profiles in patients with beta-thalassemia major and intermedia in southern Iran
Hematopoietic stem cell transplantation for thalassemia
Determination of fetal chromosome aberrations from fetal DNA in maternal blood: has the challenge finally been met?
Pulmonary Function Test in Transfusion-Dependent ß-Thalassemia Major Patients: A Pilot Study
A pilot study of the short-term use of simvastatin in sickle cell disease: effects on markers of vascular dysfunction
Transcription Regulation by Class III Histone Deacetylases (HDACs)-Sirtuins
Transcription Regulation by Class III Histone Deacetylases (HDACs)-Sirtuins
The effect of reducing repetition time TR on the measurement of liver R2 for the purpose of measuring liver iron concentration
Red cell alloimmunization in a diverse population of transfused patients with thalassaemia
Improvements in haemolysis and indicators of erythrocyte survival do not correlate with acute vaso-occlusive crises in patients with sickle cell disease: a phase III randomized, placebo-controlled, double-blind study of the Gardos channel blocker senicapoc (ICA-17043)
Rapid iron loading in heart and liver in a patient with transfusion dependent thalassaemia after brief poor compliance with iron chelation therapy
Enhanced erythropoiesis in Hfe-KO mice indicates a role for Hfe in the modulation of erythroid iron homeostasis.
Maternal and fetal circulating sKL and ET-1 levels as function of normal labor at term
A phase 1 dose-escalation study: safety, tolerability, and pharmacokinetics of FBS0701, a novel oral iron chelator for the treatment of transfusional iron overload
Cardiac iron and cardiac disease in males and females with transfusion-dependent thalassemia major: a T2* magnetic resonance imaging study
Participation of Mac-1, LFA-1 and VLA-4 integrins in the in vitro adhesion of sickle cell disease neutrophils to endothelial layers, and reversal of adhesion by simvastatin
Global gene expression analysis of human erythroid progenitors
Thrombosis and sickle cell disease
Clinical follow-up of hydroxyurea-treated adults with sickle cell disease
Transplantation for liver failure in patients with sickle cell disease: Challenging but feasible
Long-term results using hydroxyurea/phlebotomy for reducing secondary stroke risk in children with sickle cell anemia and iron overload
Prenatal, noninvasive and preimplantation genetic diagnosis of inherited disorders: hemoglobinopathies
Oxidative stress contributes to hemolysis in patients with hereditary spherocytosis and can be ameliorated by fermented papaya preparation
The global distribution of the Duffy blood group
Uptake of non-transferrin iron by erythroid cells
Novel human pathological mutations. Gene symbol: UROD. Disease: Porphyria, cutanea tarda
Transcriptional regulation of fetal to adult hemoglobin switching: new therapeutic opportunities
The antioxidant effect of erythropoietin on thalassemic blood cells.
Hydroxyurea for sickle cell anemia: what have we learned and what questions still remain?
Thalassemia intermedia is associated with a proatherogenic biochemical phenotype
The genetic heterogeneity of ß-globin gene defects in Sicily reflects the historic population migrations of the island
On t2* magnetic resonance and cardiac iron
Biomarkers of splenic function in infants with sickle cell anemia: baseline data from the BABY HUG Trial
Evidence for distinct pathways of hepcidin regulation by acute and chronic iron loading in mice.
Hb A(2) Hong Kong – A Novel d-Globin Variant in a Chinese Family Masks the Diagnosis of ß-Thalassemia Trait
Hb Sheffield [ß58(E2)Pro?His] in Oman: Potential Pitfall in Genetic Counseling
Pulmonary hypertension associated with hemoglobinopathies: prevalent but overlooked
Hb Phimai [ß72(E16)Ser?Thr]: A Novel ß-Globin Structural Variant Found in Association with Hb Constant Spring in Pregnancy
Transcellular movement of hydroxyurea is mediated by specific solute carrier transporters
Detection of hb setif in north iran and the question of its origin: Iranian or multiethnic?
Hb Boskoop [HBA2c.112C>T p.Pro38Ser]: A New a2 Chain Variant Observed in a Morrocan Family
Clinical efficacy and safety evaluation of tailoring iron chelation practice in thalassaemia patients from Asia-Pacific: a subanalysis of the EPIC study of deferasirox
Two New Hemoglobin Variants: Hb Aix-Les-Bains [ß5(A2)Pro?Leu; HBB:c.17 C>T] and Hb Dubai [a122(H5)His?Leu (a2); HBA2:c.368 A>T]
Identical Mutations in the Paralogous Human ?-Globin Genes Leading to Hemoglobin Variants and Nondeletional Hereditary Persistence of Fetal Hemoglobin
Value of black blood T2* cardiovascular magnetic resonance
Effectiveness of deferiprone in transfusion-independent beta-thalassemia/HbE patients
Hb a(2)’ (hb b2) in the omani population and diagnostic significance
Hematopoietic stem cell transplantation in thalassemia and sickle cell disease. Unicenter experience in a multi-ethnic population
Thalassemia and hemoglobinopathies in Southeast Asian newborns: diagnostic assessment using capillary electrophoresis system
Induction of Erythroid-Specific Expression in Murine Erythroleukemia (MEL) Cell Lines
Gene therapy in thalassemia and hemoglobinopathies
Screening and genetic diagnosis of hemoglobinopathies in southern and northern europe: two examples
Thalassaemia and aberrations of growth and puberty
Analytical evaluation of the Tosoh HLC-723 G8 automated HPLC analyzer for hemoglobin analysis in beta-thalassemia mode
Survival in a large cohort of Greek patients with transfusion-dependent beta thalassaemia and mortality ratios compared to the general population
Neurocognitive deficits in children with sickle cell disease: a comprehensive profile
Non-invasive prenatal diagnosis by fetal nucleic acid analysis in maternal plasma: the coming of age
Clinical management of cardiovascular complications in patients with thalassaemia major: a large observational multicenter study
Therapeutic levels of fetal hemoglobin in erythroid progeny of {beta}-thalassemic CD34+ cells after lentiviral vector-mediated gene transfer
Heterogeneity of hemoglobin H disease in childhood.
The quest for accurate measurement of fetal DNA in maternal plasma
Noninvasive prenatal diagnosis using fetal cells in maternal blood
Increased serum hepcidin levels during treatment with deferasirox in iron-overloaded patients with myelodysplastic syndrome
Gene test review. Alpha-thalassemia
Co-infusion of ex vivo-expanded, parental MSCs prevents life-threatening acute GVHD, but does not reduce the risk of graft failure in pediatric patients undergoing allogeneic umbilical cord blood transplantation
Hemoglobinopathies : community clues to mutation detection
Assessment of oxidative stress in patients with sickle cell disease: The glutathione system and the oxidant-antioxidant status
Analyzing 5′HS3 and 5′HS4 LCR core regions and NF-E2 in Iranian thalassemia intermedia patients with normal or carrier status for beta-globin mutations
Safety of short-term valacyclovir as an anti-sickling agent in sickle-cell anemia
The surgeon and the patient with β-thalassaemia intermedia
Health-related quality of life in adults with transfusion-independent thalassemia intermedia compared to regularly-transfused thalassemia major: New insights
The spine in β thalassemia syndromes
NOD2/CARD15, ATG16L1 and IL23R gene polymorphisms and childhood-onset of Crohn’s disease
Gene therapy for ß-thalassaemia: the continuing challenge
Benefits of utilizing gene-modified iPSCs for clinical applications
Experimental generation of SNP haplotype signatures in patients with sickle cell anaemia
Red blood cell generation from human induced pluripotent stem cells: perspectives for transfusion medicine
Molecular basis and hematological features of hemoglobin variants in Southern Thailand
Secondary erythrocytosis caused by hemoglobin Tak/(dß)0-thalassemia syndrome
A new sickling variant ‘Hb S-Wake ß[(Glu6Val-Asn139 Ser)]‘ found in a compound heterozygote with Hb S ß(Glu6Val) coinherited with homozygous a-thalassemia-2: phenotype and molecular characteristics
The global distribution of the Duffy blood group
Oxidative stress contributes to hemolysis in patients with hereditary spherocytosis and can be ameliorated by fermented papaya preparation
Prenatal, noninvasive and preimplantation genetic diagnosis of inherited disorders: hemoglobinopathies
Induction of Erythroid-Specific Expression in Murine Erythroleukemia (MEL) Cell Lines
Thalassemia and hemoglobinopathies in Southeast Asian newborns: diagnostic assessment using capillary electrophoresis system
Hematopoietic stem cell transplantation in thalassemia and sickle cell disease. Unicenter experience in a multi-ethnic population
Hb a(2)’ (hb b2) in the omani population and diagnostic significance
Effectiveness of deferiprone in transfusion-independent beta-thalassemia/HbE patients
Value of black blood T2* cardiovascular magnetic resonance
Oxidative Stress-Induced Membrane Shedding from RBCs is Ca Flux-Mediated and Affects Membrane Lipid Composition
Identical Mutations in the Paralogous Human ?-Globin Genes Leading to Hemoglobin Variants and Nondeletional Hereditary Persistence of Fetal Hemoglobin
Two New Hemoglobin Variants: Hb Aix-Les-Bains [ß5(A2)Pro?Leu; HBB:c.17 C>T] and Hb Dubai [a122(H5)His?Leu (a2); HBA2:c.368 A>T]
Clinical efficacy and safety evaluation of tailoring iron chelation practice in thalassaemia patients from Asia-Pacific: a subanalysis of the EPIC study of deferasirox
Hb Boskoop [HBA2c.112C>T p.Pro38Ser]: A New a2 Chain Variant Observed in a Morrocan Family
Detection of hb setif in north iran and the question of its origin: Iranian or multiethnic?
Transcellular movement of hydroxyurea is mediated by specific solute carrier transporters
Hb Phimai [ß72(E16)Ser?Thr]: A Novel ß-Globin Structural Variant Found in Association with Hb Constant Spring in Pregnancy
Pulmonary hypertension associated with hemoglobinopathies: prevalent but overlooked.
Hb Sheffield [ß58(E2)Pro?His] in Oman: Potential Pitfall in Genetic Counseling
Hb A(2) Hong Kong – A Novel d-Globin Variant in a Chinese Family Masks the Diagnosis of ß-Thalassemia Trait
Maternal and fetal circulating sKL and ET-1 levels as function of normal labor at term
Enhanced erythropoiesis in Hfe-KO mice indicates a role for Hfe in the modulation of erythroid iron homeostasis
Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia
Hepcidin and disorders of iron metabolism
Impact of early transcranial Doppler screening and intensive therapy on cerebral vasculopathy outcome in a newborn sickle cell anemia cohort
Deferiprone or deferasirox for cardiac siderosis in {beta} thalassemia major (reply)
Systems biology and red cells
Seeking optimal relation between oxygen saturation and hemoglobin concentration in adults with cyanosis from congenital heart disease
Fok-I gene polymorphism of vitamin D receptor in patients with beta-thalassemia major and its effect on vitamin D status
Early echocardiographic findings in ß-thalassemia intermedia patients using standard and tissue Doppler methods
A systems approach to analyze transcription factors in mammalian cells
Solving the problem of ?-retroviral vectors containing long terminal repeats
Cell-free nucleic acids as potential markers for preeclampsia
The IVS1-2A>gt;G mutation in the SRD5A2 gene predominates in Cypriot patients with 5a reductase deficiency
Characterization of alpha thalassemic genotypes by multiplex ligation-dependent probe amplification in the Brazilian population
Transferrin is a major determinant of hepcidin expression in hypotransferrinemic mice
T-type calcium channel as a portal of iron uptake into cardiomyocytes of beta-thalassemic mice
Optimal management of ß thalassaemia intermedia
Novel and known microsatellite markers within the β-globin cluster to support robust preimplantation genetic diagnosis of β-thalassemia and sickle cell syndromes
β+-Thalassemia trait due to a novel mutation in the β-globin gene promoter: -26 (A_C) [HBB c.-76A_C]
Magnetic resonance evaluation of hepatic and myocardial iron deposition in transfusion-independent thalassemia intermedia compared to regularly transfused thalassemia major patients
Age-related complications in treatment-naïve patients with thalassaemia intermedia
Iron chelation therapy for patients with sickle cell disease and iron overload
Efficacy and safety of deferasirox, an oral iron chelator, in heavily iron-overloaded patients with beta-thalassaemia: the ESCALATOR study
Reduction in labile plasma iron during treatment with deferasirox, a once-daily oral iron chelator, in heavily iron-overloaded patients with beta-thalassaemia
Efficacy and safety of deferasirox doses of >30 mg/kg per d in patients with transfusion-dependent anaemia and iron overload
Deferasirox (Exjade) significantly improves cardiac T2* in heavily iron-overloaded patients with beta-thalassemia major
Tailoring iron chelation by iron intake and serum ferritin: the prospective EPIC study of deferasirox in 1744 patients with transfusion-dependent anemias
Efficacy of deferasirox in reducing and preventing cardiac iron overload in beta-thalassemia
Improved treatment satisfaction and convenience with deferasirox in iron-overloaded patients with beta-Thalassemia: Results from the ESCALATOR Trial
Continued improvement in myocardial T2* over two years of deferasirox therapy in β-thalassemia major patients with cardiac iron overload
Challenges associated with prolonged survival of patients with thalassemia: transitioning from childhood to adulthood
Levels of non-transferrin-bound iron as an index of iron overload in patients with thalassaemia intermedia
Absence of cardiac siderosis by MRI T2* despite transfusion burden, hepatic and serum iron overload in Lebanese patients with sickle cell disease
Asymptomatic brain magnetic resonance imaging abnormalities in splenectomized adults with thalassemia intermedia
Absence of cardiac siderosis despite hepatic iron overload in Italian patients with thalassemia intermedia: an MRI T2* study
Overview on practices in thalassemia intermedia management aiming for lowering complication rates across a region of endemicity: the OPTIMAL CARE study
Splenectomy and thrombosis: the case of thalassemia intermedia
Bone disease and skeletal complications in patients with β thalassemia major
Optimal management of β thalassaemia intermedia
Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles
Full COLD-PCR protocol for noninvasive prenatal diagnosis of genetic diseases
Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus
Quantitatively different red cell/nucleated cell chimerism in patients with long-term, persistent hematopoietic mixed chimerism after bone marrow transplantation for thalassemia major or sickle cell disease
Deferasirox, deferiprone and desferrioxamine treatment in thalassemia major patients: cardiac iron and function comparison determined by quantitative magnetic resonance imaging
Continued improvement in myocardial T2* over two years of deferasirox therapy in ß-thalassemia major patients with cardiac iron overload
Genetic predisposition to ß-thalassemia and sickle cell anemia in Turkey: a molecular diagnostic approach
Clinical, hematologic and molecular variability of sickle cell-ß thalassemia in western India
Occurrence of common and rare d-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of d-globin gene defects in ß-thalassemia diagnostics
Reversal of cardiac iron loading and dysfunction in thalassemic mice by curcuminoids
Genomic safe harbors permit high ß-globin transgene expression in thalassemia induced pluripotent stem cells
Normal pregnancy in a patient with β-thalassaemia major receiving iron chelation therapy with deferasirox (Exjade(®) )
Optimal management of β thalassaemia intermedia
Survival in a large cohort of Greek patients with transfusion dependent beta thalassaemia and mortality ratios compared to the general population
Renal complications in transfusion-dependent beta thalassaemia.
Allogeneic cellular gene therapy for hemoglobinopathies
The population genetics and dynamics of the thalassemias
Anemia, ineffective erythropoiesis, and hepcidin: interacting factors in abnormal iron metabolism leading to iron overload in ß-thalassemia
Double disadvantage: a case control study on health-related quality of life in children with sickle cell disease
Molecular screening of the Hbs Constant Spring (codon 142, TAA>CAA, a2) and Paksé (codon 142, TAA>TAT, a2) mutations in Thailand
CTCF regulates the local epigenetic state of ribosomal DNA repeats
Analysis of real-time PCR cycle threshold of alpha-thalassemia-1 Southeast Asian type deletion using fetal cell-free DNA in maternal plasma for noninvasive prenatal diagnosis of Bart’s hydrops fetalis
The need for genetically engineering therapeutic pluripotent stem cells
Hepcidin as a therapeutic tool to limit iron overload and improve anemia in ß-thalassemic mice
Molecular medicine; the road to the better integration of the medical sciences in the twenty-first century
Osteoporosis syndrome in thalassaemia major: an overview.
Unexpectedly low pulse oximetry measurements associated with variant hemoglobins: a systematic review
Cardiac magnetic resonance in transfusion dependent thalassaemia: assessment of iron load and relationship to left ventricular ejection fraction
A calcified mass in the spinal canal of a patient with ß-thalassemia major.
Management of chronic viral hepatitis in patients with thalassemia: recommendations from an international panel.
Habitual physical activity and endothelial activation in sickle cell trait carriers
The safety, tolerability, and efficacy of a liquid formulation of deferiprone in young children with transfusional iron overload
The diagnostic dilemma of congenital unstable hemoglobinopathies
Distribution of cardiac iron measured by magnetic resonance imaging (MRI)-R*2.
ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner
Aggregation of mononuclear and red blood cells through an {alpha}4{beta}1-Lu/basal cell adhesion molecule interaction in sickle cell disease
Global distribution of the sickle cell gene and geographical confirmation of the malaria hypothesis
Splenectomy and thrombosis: the case of thalassemia intermedia
Endocrine and bone disease in appropriately treated adult patients with beta-thalassemia major
Gene symbol: HBD. Disease: Thalassaemia delta
Future challenges in the use of magnetic resonance imaging for the diagnosis of iron overload
SYTO9 and SYBR GREEN1 with a high-resolution melting analysis for prenatal diagnosis of ß(0) -thalassemia/hemoglobin-E
Reduction of body iron stores to normal range levels in thalassaemia by using a deferiprone/deferoxamine combination and their maintenance thereafter by deferiprone monotherapy
Thalassemia and iron deficiency in a group of northeast Thai school children: relationship to the occurrence of anemia
Crosstalk between Erythropoiesis and Iron Metabolism
Decreased sickle red blood cell adhesion to laminin by hydroxyurea is associated with inhibition of Lu/BCAM protein phosphorylation
Homozygous deletion of the major alpha-globin regulatory element (MCS-R2) responsible for a severe case of hemoglobin H disease
Leg ulcers in sickle cell disease
Development and validation of a pediatric severity index for sickle cell patients
Analysis of alpha hemoglobin stabilizing protein overexpression in murine ß-thalassemia
Haemoglobin Bonn in a Chinese family as a cause of spurious hypoxaemia measured by pulse oximetry
One-third of the new paediatric patients with sickle cell disease in The Netherlands are immigrants and do not benefit from neonatal screening
Major challenges for gene therapy of thalassemia and sickle cell disease
Gene therapy for ß-thalassaemia: the continuing challenge
Benefits of utilizing gene-modified iPSCs for clinical applications
Experimental generation of SNP haplotype signatures in patients with sickle cell anaemia
Red blood cell generation from human induced pluripotent stem cells: perspectives for transfusion medicine
Molecular basis and hematological features of hemoglobin variants in Southern Thailand
Secondary erythrocytosis caused by hemoglobin Tak/(dß)0-thalassemia syndrome
Pregnancy in sickle cell disease: maternal and fetal outcomes in a population receiving prophylactic partial exchange transfusions
The effect of UGT1A1 promoter polymorphism on bilirubin response to hydroxyurea therapy in hemoglobinopathies
Immunohematologic reconstitution in pediatric patients after T cell-depleted HLA-haploidentical stem cell transplantation for thalassemia
Reconstructing blood from induced pluripotent stem cells
A new scientific journal linked to a genetic database: towards a novel publication modality
The impact of previous or concomitant IFN therapy on deferiprone-induced agranulocytosis and neutropenia: a retrospective study
A new sickling variant ‘Hb S-Wake ß[(Glu6Val-Asn139 Ser)]‘ found in a compound heterozygote with Hb S ß(Glu6Val) coinherited with homozygous a-thalassemia-2: phenotype and molecular characteristics.
Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia
Relation of chelation regimes to cardiac mortality and morbidity in patients with thalassaemia major: an observational study from a large Greek Unit
Relation of chelation regimes to cardiac mortality and morbidity in patients with thalassaemia major: an observational study from a large Greek Unit
Embryo-fetal erythroid megaloblasts in the human coelomic cavity
Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin
Education and employment status of children and adults with thalassemia in North America
Amelioration of oxidative stress in red blood cells from patients with beta-thalassemia major and intermedia and E-beta-thalassemia following administration of a fermented papaya preparation
Hydroxyurea therapy requires HbF induction for clinical benefit in a sickle cell mouse model
Expression of microRNA-451 in normal and thalassemic erythropoiesis
[Flowcharts for the diagnosis and the molecular characterization of hemoglobinopathies]
Metabolic disorders associated with chronic hepatitis C: impact of genotype and ethnicity
Pathogenesis and management of iron toxicity in thalassemia
Iron metabolism and ineffective erythropoiesis in beta-thalassemia mouse models
Combined iron chelation therapy
Better survival and less cardiac morbidity in female patients with thalassemia major: a review of the literature.
Progress in hematopoietic stem cell transplantation as allogeneic cellular gene therapy in thalassemia.
Progress in hematopoietic stem cell transplantation as allogeneic cellular gene therapy in thalassemia.
The natural history of thalassemia intermedia
The role of antioxidants and iron chelators in the treatment of oxidative stress in thalassemia.
Strategy for a multicenter phase I clinical trial to evaluate globin gene transfer in beta-thalassemia
Magnetic resonance assessment of iron overload by separate measurement of tissue ferritin and hemosiderin iron.
A preclinical approach for gene therapy of beta-thalassemia
Emerging insights in the management of hemoglobin E beta thalassemia.
Hepcidin and Hfe in iron overload in beta-thalassemia
Treatment options for thalassemia patients with osteoporosis
Thalassemia as a global health problem: recent progress toward its control in the developing countries
Hematopoietic stem cell mobilization strategies for gene therapy of beta thalassemia and sickle cell disease
Deferiprone
Fetal globin gene inducers: novel agents and new potential
Expression of microRNA-451 in normal and thalassemic erythropoiesis
EPO Receptor Gain-of-Function Causes Hereditary Polycythemia, Alters CD34 Cell Differentiation and Increases Circulating Endothelial Precursors
Binding patterns of BCL11A in the globin and GATA1 loci and characterization of the BCL11A fetal hemoglobin locus.
New golden era of chelation therapy in thalassaemia: the achievement and maintenance of normal range body iron stores
Age-related complications in treatment-naïve patients with thalassaemia intermedia
Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin
Implementing neonatal screening for haemoglobinopathies in the Netherlands
Hepatocellular carcinoma in patients with thalassaemia syndromes: clinical characteristics and outcome in a long term single centre experience
Combined chelation therapy in thalassemia major with deferiprone and desferrioxamine: a retrospective study
Region-specific genetic heterogeneity of HBB mutation distribution in South-Western Greece
Genetic databases and their potential in pharmacogenomics
Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening
Hb Charlieu [alpha106(G13)Leu-->Pro (alpha1)]: a new phenotypically silent hemoglobin variant associated with a mild alpha-thalassemia phenotype
ETHNOS : A versatile electronic tool for the development and curation of national genetic databases
Regulation of the human HBA genes by KLF4 in erythroid cell lines
The importance of micromapping the gene frequencies for the common inherited disorders of haemoglobin
Beta-thalassemia
Alpha-thalassaemia
Combined chelation therapy in thalassemia major with deferiprone and desferrioxamine: a retrospective study
Phenotypic expression and origin of the rare beta-thalassemia splice site mutation HBB:c.315 + 1G>T
Alpha-hemoglobin stabilizing protein (AHSP), a kinetic scheme of the action of a human mutant, AHSPV56G
Evaluation of a panel of circulating DNA, RNA and protein potential markers for pathologies of pregnancy
The inherited diseases of hemoglobin are an emerging global health burden
Improved treatment satisfaction and convenience with deferasirox in iron-overloaded patients with beta-Thalassemia: Results from the ESCALATOR Trial
Regulation of the human HBA genes by KLF4 in erythroid cell lines
The importance of micromapping the gene frequencies for the common inherited disorders of haemoglobin
alpha-thalassaemia masked by beta gene defects and a new polyadenylation site mutation on the alpha2-globin gene
Effect of human beta-globin bacterial artificial chromosome transgenesis on embryo cryopreservation in mouse models
Rapid diagnosis of alpha-thalassemia by melting curve analysis
Genetic modifiers of Hb E/beta0 thalassemia identified by a two-stage genome-wide association study
[Library of variants (LOV) v. 1.0: an help for the interpretation of the phenotypic haemoglobin data obtained with liquid chromatography Bio-Rad devices.]
Functional analysis of the role of the TPMT gene promoter VNTR polymorphism in TPMT gene transcription
Two new alpha1-globin gene point mutations: Hb Nedlands (HBA1:c.86C>T) [alpha28(B9)Ala-->Val] and Hb Queens Park (HBA1:c.98T>A) [alpha32(B13)Met-->Lys]
Hb Valletta [beta87(F3)Thr-->Pro] and Hb Marseille/Long Island [beta2(NA2)His-->Pro; (-1)Met-(+1)Val-(+2)Pro-Leu], in a unique compound heterozygote with a normal hemoglobin phenotype
Extended molecular spectrum of beta- and alpha-thalassemia in Oman
beta-Globin gene cluster haplotypes of Hb D-Punjab
Beta-globin gene cluster haplotypes in Yemeni children with sickle cell disease
Tailoring iron chelation by iron intake and serum ferritin: the prospective EPIC study of deferasirox in 1744 patients with transfusion-dependent anemias