α-Thalassemia resulting from deletion of regulatory sequences far upstream of the α-globin structural genes

Abstract

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. © 1991 by The American Society of Hematology.