α-Thalassemia resulting from deletion of regulatory sequences far upstream of the α-globin structural genes
Romao L., Osorio-Almeida L., Higgs DR., Lavinha J., Liebhaber SA.
We describe an α-thalassemia determinant in which α-globin expression is silenced by a deletion located 27 kb 5' to the transcription start site of the α2-globin gene. This α-thalassemic determinant, (αα)(MM), is a member of a newly described group of thalassemic mutations resulting from deletion of locus-controling sequences critical to globin gene expression.