Fig. 3.

Schematic drawing of the 14 α-globin chain variants resulting from an identical mutation in either the HBA1 or HBA2 genes. Original graphs have been automatically generated by HbVar graphical display [8]. Thick lines under each coding sequence (CDS) represent the position of each substitution deposited in HbVar. Asterisk 3′ end of the human α-globin gene conversion tract [6], caret PSVs in the promoter and coding sequences of the human α-globin genes (c.300+55G/T, c.301-35_29GGCCCTCdel, c.301-24C/G, c.*+15G/A, c.*+19A/G) deducted from sequence comparison between the HBA2 and HBA1 reference sequences (NG_000006.1; see also Supplementary data)