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Alpha-thalassemia resulting from deletion of regulatory sequences far upstream of the alpha-globin structural genes

L Romao, L Osorio-Almeida, DR Higgs, J Lavinha and SA Liebhaber

Howard Hughes Medical Institute, Department of Human Genetics and Medicine, University of Pennsylvania, Philadelphia 19104.

We describe an alpha-thalassemia determinant in which alpha-globin expression is silenced by a deletion located 27 kb 5' to the transcription start site of the alpha 2-globin gene. This alpha- thalassemic determinant, (alpha alpha)MM, is a member of a newly described group of thalassemic mutations resulting from deletion of locus-controlling sequences critical to globin gene expression.

Volume 78, Issue 6, pp. 1589-1595, 09/15/1991
Copyright © 1991 by The American Society of Hematology


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