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  • Title: Alpha-thalassemia resulting from deletion of regulatory sequences far upstream of the alpha-globin structural genes.
    Author: Romao L, Osorio-Almeida L, Higgs DR, Lavinha J, Liebhaber SA.
    Journal: Blood; 1991 Sep 15; 78(6):1589-95. PubMed ID: 1715793.
    Abstract:
    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.
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