Fig. 1

Deletional analysis of subject 1. A MLPA analysis in the α-globin cluster. The yellow box indicates the deletional region. The red dashed line shows a ratio of 1.25, while the blue dashed line shows a ratio of 0.75. B ddPCR results of subjects. S1 to S4 indicate subject 1 to 4. Copy numbers > 0.6 and < 1.25 were considered one copy. C SMRT sequencing analysis in the α-globin cluster. The light yellow and blue regions indicate the two alleles of the α-globin gene cluster. The red dashed box shows the deletional region. Blue boxes indicate the relative positions of the genes on chromosome 16. The vertical colored lines indicate nucleotides A (green), T (red), C (blue) and G (orange) discordant with alignment to the hg38 reference sequence. F, Forward primer; R, reverse primer. We used other primers (such as WF and WR) to amplify the wild-type allele because the fragment was up to 40 kb in the wild type allele, which PCR was unable to amplify