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EF Bart's disease: Interaction of the abnormal α‐ and β‐globin genes
Author(s) -
Fucharoen S.,
Winichagoon P.,
Thonglairuam V.,
Wasi P.
Publication year - 1988
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.1988.tb00800.x
Subject(s) - gene , phenotype , genotype , disease , genetics , microbiology and biotechnology , biology , medicine
EF Bart's disease is an uncommon form of thalassaemia intermedia resulting from the co‐inheritance of α‐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.