4.6 Review

Beta-thalassemia

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

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

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

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Kazutoshi Takahashi et al.

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

Toshihiko Tanno et al.

NATURE MEDICINE (2007)

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Modern treatment of thalassaemia intermedia

Caterina Borgna-Pignatti

BRITISH JOURNAL OF HAEMATOLOGY (2007)

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Light and shadows in the iron chelation treatment of haematological diseases

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

Marius Wernig et al.

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

Swee Lay Thein et al.

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Liver iron concentrations and urinary hepcidin in β-thalassemia

Raffaella Origa et al.

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

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Correction of the sickle cell mutation in embryonic stem cells

JC Chang et al.

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Intercentre reproducibility of magnetic resonance T2*measurements of myocardial iron in thalassaemia

MA Westwood et al.

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Medical progress:: β-thalassemia

D Rund et al.

NEW ENGLAND JOURNAL OF MEDICINE (2005)

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Recent advances in fetal nucleic acids in maternal plasma

YMD Lo

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Hepatocellular carcinoma in the thalassaemia syndromes

C Borgna-Pignatti et al.

BRITISH JOURNAL OF HAEMATOLOGY (2004)

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Proton transverse relaxation rate (R2) images of iron-loaded liver tissuepping local tissue iron concentrations with MRI

PR Clark et al.

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Stern cell transplantation for hemoglobinopathies

J Gaziev et al.

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Screening for thalassemia - A model of success

A Cao et al.

OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA (2002)

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A novel mechanism for thalassaemia intermedia

C Badens et al.

LANCET (2002)

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The hypercoagulable state in thalassemia

A Eldor et al.

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Cholelithiasis and Gilbert's syndrome in homozygous β-thalassaemia

R Galanello et al.

BRITISH JOURNAL OF HAEMATOLOGY (2001)

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Cardiovascular T2-star (T2*) magnetic resonance for the early diagnosis of myocardial iron overload

LJ Anderson et al.

EUROPEAN HEART JOURNAL (2001)

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

V Viprakasit et al.

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Phenotype-genotype relationships in monogenic disease: Lessons from the thalassaemias

DJ Weatherall

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Haemochromatosis in patients with β-thalassaemia trait

A Piperno et al.

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

S Perrotta et al.

BRITISH JOURNAL OF HAEMATOLOGY (2000)