Literature DB >> 3342862

EF Bart's disease: interaction of the abnormal alpha- and beta-globin genes.

S Fucharoen1, P Winichagoon, V Thonglairuam, P Wasi.   

Abstract

EF Bart's disease is an uncommon form of thalassaemia intermedia resulting from the co-inheritance of alpha-thalassaemia and haemoglobin E in the same subject. Starch-gel electrophoresis revealed two phenotypes in 19 patients with EF Bart's. 16 patients had Hbs CS + E + F + Bart's and the remainder had Hbs E + F + Bart's. DNA mapping and haemoglobin electrophoresis indicated that there are four genotypes, involving 5 abnormal globin genes, responsible for this thalassaemia syndrome.

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Year:  1988        PMID: 3342862     DOI: 10.1111/j.1600-0609.1988.tb00800.x

Source DB:  PubMed          Journal:  Eur J Haematol        ISSN: 0902-4441            Impact factor:   2.997


  3 in total

Review 1.  The hemoglobin E thalassemias.

Authors:  Suthat Fucharoen; David J Weatherall
Journal:  Cold Spring Harb Perspect Med       Date:  2012-08-01       Impact factor: 6.915

Review 2.  Haemoglobinopathies in southeast Asia.

Authors:  Suthat Fucharoen; Pranee Winichagoon
Journal:  Indian J Med Res       Date:  2011-10       Impact factor: 2.375

3.  EF Bart's Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia.

Authors:  Kane M Laks; Cara Hirner; Barbara Gruner; Jared Coberly; Katsiaryna Laziuk; Bindu Kanathezhath Sathi
Journal:  Case Rep Hematol       Date:  2020-10-30
  3 in total

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