Fig.6

(a) PCR primers around probes with normal dosages in the HBG1- IVS2 and HBG2 upstream regions resulting in the amplification of an abnormally shortened PCR product (1.7 kb) in the patient (lane Patient); (b) MLPA analysis showing half dosages for three probes located in the HBG2 and HBG1 regions in the patient; (c) complete sequences of the HBG2–HBG1 fusion gene in Patient 1. The HBG2 and HBG1 region were composed of two parts: one included the promoter, exon 1, intron 1 and a part of exon 2 of HBG2, and the other included a part of exon 2 and intron 2 of HBG1; HBG2-specific sequences are highlighted in yellow, and HBG1-specific sequences are highlighted in red