Deletions 5′ to the α-globin gene cluster associated with α-thalassemia. A map of the human α-globin gene cluster and 5′ flanking region is shown on the first line with genes and coordinates as defined above. The positions of the DNase l hypersensitive sites (HS) are shown by the vertical arrows with the size of the arrow proportionate to the degree of sensitivity. The telomere of chromosome 16q is shown at the extreme left of the diagram (Tel). Below the map are the 4 described deletions covering the HS region and associated with α-thalassemia. The dark bars represent the regions deleted in each case with (- - - - -) denoting undefined extent. The 4 deletions are RA, TI, IJ, and MM (present report). Reprinted from Romao et al12 with permission.
