The hemoglobin E thalassemias.

No abstract is available for this paper.

• Publication year

  2012

• Venue

  Cold Spring Harbor Perspectives in Medicine

• Publication date

  2012-08-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1101/cshperspect.a011734PMID 22908199PMCID PMC3405827
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• The molecular basis of α-thalassemia.

  2013cited by this paper
• The Molecular Basis of b-Thalassemia

  2013cited by this paper
• Management of the thalassemias.

  2013cited by this paper
• Clinical manifestations of α-thalassemia.

  2013influential reference
• The molecular basis of β-thalassemia.

  2013cited by this paper
• The switch from fetal to adult hemoglobin.

  2013cited by this paper
• Molecular Basis of Thalassemia

  2012cited by this paper
• β-thalassemia intermedia: a clinical perspective.

  2012cited by this paper
• World distribution, population genetics, and health burden of the hemoglobinopathies.

  2012cited by this paper
• Pathophysiology and Clinical Manifestations of the β-Thalassemias.

  2012cited by this paper
• b -Thalassemia Intermedia: A Clinical Perspective

  2012cited by this paper
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  2011cited by this paper
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  2010cited by this paper
• Adaptation to anemia in hemoglobin E-ß thalassemia.

  2010cited by this paper
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  2010cited by this paper
• Emerging insights in the management of hemoglobin E beta thalassemia

  2010cited by this paper
• Interaction of malaria with a common form of severe thalassemia in an Asian population

  2009influential reference
• Disorders of Hemoglobin: Hemoglobin E Disorders

  2009cited by this paper
• Heart rate variability in beta‐thalassemia patients

  2009cited by this paper
• A genome-wide association identified the common genetic variants influence disease severity in β0-thalassemia/hemoglobin E

  2009cited by this paper
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  2008cited by this paper
• Age-related changes in adaptation to severe anemia in childhood in developing countries

  2007cited by this paper
• Prevention and control of thalassemia in Asia

  2007cited by this paper
• Haemoglobin E beta thalassaemia in Sri Lanka.

  2005cited by this paper
• Haemoglobin Ethalassaemia in Sri Lanka

  2005influential reference
• Early detection of cardiac dysfunction in thalassemic patients by radionuclide angiography and heart rate variability analysis

  2005cited by this paper
• Flow cytometric quantitation of red blood cell vesicles in thalassemia

  2004cited by this paper
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  2003cited by this paper
• Increased circulating activated endothelial cells, vascular endothelial growth factor, and tumor necrosis factor in thalassemia

  2002cited by this paper
• Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia.

  2001influential reference
• Prenatal control of severe thalassaemia: Chiang Mai Strategy

  2000cited by this paper
• Prenatal and postnatal diagnoses of thalassemias and hemoglobinopathies by HPLC.

  1998cited by this paper
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  1998cited by this paper
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  1997cited by this paper
• Observations on the relationship between γ‐globin chain content and globin chain precipitation in thalassaemic erythroblasts and on the composition of erythroblastic inclusions in HbE/β‐thalassaemia

  1997cited by this paper
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  1996cited by this paper
• Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency.

  1996cited by this paper
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  1995cited by this paper
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  1994cited by this paper
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  1993cited by this paper
• Fatal arteritis due to Pythium insidiosum infection in patients with thalassaemia.

  1993cited by this paper
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  1992cited by this paper
• Spinal cord compression in thalassemia major: value of MR imaging

  1991cited by this paper
• Cardiac involvement in beta-thalassemia/hemoglobin E disease: clinical and hemodynamic findings.

  1990cited by this paper
• Human pythiosis associated with thalassemia hemoglobinopathy syndrome.

  1989cited by this paper
• The molecular basis of AE-Bart's disease.

  1989cited by this paper
• Cholecystectomy in thalassemia.

  1988cited by this paper
• Beta-thalassemia associated with alpha-thalassemia in Thailand.

  1988influential reference
• Histochemical study of liver tissue from thalassemic patients.

  1988cited by this paper
• Pathologic findings in 76 autopsy cases of thalassemia.

  1988cited by this paper
• Gallstones in thalassemia.

  1988cited by this paper
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  1988cited by this paper
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  1987cited by this paper
• Different severity of homozygous β-thalassemia among siblings

  1987cited by this paper
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  1987cited by this paper
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  1987cited by this paper
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  1987cited by this paper
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  1987cited by this paper
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  1987cited by this paper
• Concomitant inheritance of alpha-thalassemia in beta 0- thalassemia/Hb E disease.

  1985cited by this paper
• Concomitant inheritance of α‐thalassemia in β°‐thalassemia/hb e disease

  1985cited by this paper
• Cardiac pathology in 47 patients with beta thalassaemia/haemoglobin E.

  1984cited by this paper
• Hypoxemia in thalassemia.

  1982cited by this paper
• Abnormal RNA processing due to the exon mutation of beta E-globin gene.

  1982cited by this paper
• Abnormal RNA processing due to the exon mutation of βE-globin gene

  1982cited by this paper
• Spinal cord compression in thalassemia. Report of 12 cases and recommendations for treatment.

  1981cited by this paper
• ENDOCRINE FUNCTION IN THALASSAEMIA

  1981cited by this paper
• Serum ferritin levels in thalassemias and the effect of splenectomy.

  1981cited by this paper
• Hypoxaemia and the effect of aspirin in thalassaemia.

  1981cited by this paper
• Defective synthesis of HbE is due to reduced levels of beta E mRNA.

  1980cited by this paper
• INCREASED TRANSFERRIN IRON SATURATION IN SPLENECTOMIZED THALASSAEMIC PATIENTS

  1980cited by this paper
• Pulmonary artery obstruction in thalassaemia.

  1980cited by this paper
• Defective synthesis of HbE is due to reduced levels of βE mRNA

  1980cited by this paper
• A syndrome of hypertension, convulsion, and cerebral haemorrhage in thalassaemic patients after multiple blood-transfusions.

  1978cited by this paper
• Hemoglobin E, an oxidatively unstable mutation.

  1975cited by this paper
• Alpha- and beta-thalassemia in Thailand.

  1969cited by this paper
• ALPHA‐ AND BETA‐THALASSEMIA IN THAILAND *

  1969cited by this paper
• Haemoglobin E and alpha-Thalassaemia.

  1967cited by this paper
• The thalassaemia syndromes

  1965cited by this paper
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  1956cited by this paper
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  1956cited by this paper
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  1954cited by this paper
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  1954cited by this paper

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