EF Bart's disease: Interaction of the abnormal α‐ and β‐globin genes
- 1 January 1988
- journal article
- research article
- Published by Wiley in European Journal of Haematology
- Vol. 40 (1) , 75-78
- https://doi.org/10.1111/j.1600-0609.1988.tb00800.x
Abstract
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.Keywords
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