Beta-thalassemia. (Q37680651)

21 August 2017

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title

Beta-thalassemia. (English)

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21 August 2017

Antonio Cao

1

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21 August 2017

Renzo Galanello

series ordinal

2

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21 August 2017

language of work or name

English

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publication date

1 February 2010

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21 August 2017

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21 August 2017

12

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21 August 2017

61-76

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21 August 2017

2

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https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181cd68ed

21 August 2017

0 references

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

New insights into the pathophysiology and management of osteoporosis in patients with beta thalassaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Osteoporosis in beta-thalassemia: Clinical and genetic aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Hepatocellular carcinoma in the thalassaemia syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

The hypercoagulable state in thalassemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

A role of SMAD4 in iron metabolism through the positive regulation of hepcidin expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Liver iron concentrations and urinary hepcidin in beta-thalassemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Ineffective erythropoiesis in beta-thalassemia is characterized by increased iron absorption mediated by down-regulation of hepcidin and up-regulation of ferroportin

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Downregulation of hepcidin and haemojuvelin expression in the hepatocyte cell-line HepG2 induced by thalassaemic sera.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Rapid screening of multiple beta-globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Molecular analysis of alpha/beta-thalassemia in a southern Chinese population

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

Thalassaemia intermedia

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Genotype-phenotype correlations in beta-thalassemias.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Multiple mutations produce delta beta 0 thalassemia in Sardinia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Discovering the genetics underlying foetal haemoglobin production in adults.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

BCL11A represses HBG transcription in K562 cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Evidence of genetic interaction between the beta-globin complex and chromosome 8q in the expression of fetal hemoglobin

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Quantitative trait locus on chromosome 8q influences the switch from fetal to adult hemoglobin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Amelioration of Sardinian beta0 thalassemia by genetic modifiers

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Dominant beta thalassaemia: molecular basis and pathophysiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), causing a severe beta-thalassemia intermedia phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Is it dominantly inherited beta thalassaemia or just a beta-chain variant that is highly unstable?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Somatic deletion of the normal beta-globin gene leading to thalassaemia intermedia in heterozygous beta-thalassaemic patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Loss of alpha-hemoglobin-stabilizing protein impairs erythropoiesis and exacerbates beta-thalassemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Alpha-haemoglobin stabilising protein is a quantitative trait gene that modifies the phenotype of beta-thalassaemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

The interaction between Gilbert's syndrome and G6PD deficiency influences bilirubin levels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Nontransfusional iron overload in thalassemia. Association with hereditary hemochromatosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Osteoporosis in beta-thalassaemia major patients: analysis of the genetic background.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Common west African HLA antigens are associated with protection from severe malaria

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Variation in the TNF-alpha promoter region associated with susceptibility to cerebral malaria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

A high frequency African coding polymorphism in the N-terminal domain of ICAM-1 predisposing to cerebral malaria in Kenya.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Prenatal diagnosis and screening of the haemoglobinopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Human alpha-thalassemia syndromes: detection of molecular defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Screening for thalassemia: a model of success.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Identification of nucleated red blood cells in maternal circulation: a second step in screening for fetal aneuploidies and pregnancy complications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Prenatal diagnosis of sickle cell anaemia and thalassaemia by analysis of fetal cells in maternal blood

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Recent advances in fetal nucleic acids in maternal plasma

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Modern treatment of thalassaemia intermedia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Myocardial iron clearance during reversal of siderotic cardiomyopathy with intravenous desferrioxamine: a prospective study using T2* cardiovascular magnetic resonance

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Monitoring long-term efficacy of iron chelation therapy by deferiprone and desferrioxamine in patients with beta-thalassaemia major: application of SQUID biomagnetic liver susceptometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Safety and effectiveness of long-term therapy with the oral iron chelator deferiprone

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Comparison of effects of oral deferiprone and subcutaneous desferrioxamine on myocardial iron concentrations and ventricular function in beta-thalassaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Cardiac morbidity and mortality in deferoxamine- or deferiprone-treated patients with thalassemia major

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

The safety and effectiveness of deferiprone in a large-scale, 3-year study in Italian patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Randomized controlled trial of deferiprone or deferoxamine in beta-thalassemia major patients with asymptomatic myocardial siderosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Light and shadows in the iron chelation treatment of haematological diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Oral chelators deferasirox and deferiprone for transfusional iron overload in thalassemia major: new data, new questions

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

A phase 3 study of deferasirox (ICL670), a once-daily oral iron chelator, in patients with beta-thalassemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

A randomized, placebo-controlled, double-blind trial of the effect of combined therapy with deferoxamine and deferiprone on myocardial iron in thalassemia major using cardiovascular magnetic resonance

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Combined chelation therapy in thalassemia major for the treatment of severe myocardial siderosis with left ventricular dysfunction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Long-term sequential deferiprone-deferoxamine versus deferiprone alone for thalassaemia major patients: a randomized clinical trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Value of sequential monitoring of left ventricular ejection fraction in the management of thalassemia major

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Onset of cardiac iron loading in pediatric patients with thalassemia major.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Stem cell transplantation for hemoglobinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Sibling donor cord blood transplantation for thalassemia major: Experience of the Sibling Donor Cord Blood Program.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Fetal HLA typing in beta thalassaemia: implications for haemopoietic stem-cell transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Understanding mechanisms of gamma-globin gene regulation to develop strategies for pharmacological fetal hemoglobin induction

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Molecular therapies in beta-thalassaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Hydroxyurea can eliminate transfusion requirements in children with severe β-thalassemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Therapeutic options for patients with severe beta-thalassemia: the need for globin gene therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

A novel murine model of Cooley anemia and its rescue by lentiviral-mediated human beta-globin gene transfer

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Successful correction of the human beta-thalassemia major phenotype using a lentiviral vector

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Correction of the sickle cell mutation in embryonic stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

In vitro reprogramming of fibroblasts into a pluripotent ES-cell-like state

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

Treatment of sickle cell anemia mouse model with iPS cells generated from autologous skin

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

8 The population genetics of the haemoglobinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181CD68ED

10.1097/GIM.0B013E3181CD68ED

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

21 August 2017

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1 reference