Identification of a novel 91.5 kb-deletion (αα) FJ in the α-globin gene cluster using single-molecule real-time (SMRT) sequencing

We first reported a 91.5-kb deletion (NC_000016.10: g.hg38-chr16:39268-_130758del) of the HS-40 region in the α-globin gene cluster (αα)^FJ identified in a Chinese family. Since the HS-40 loss of heterozygosity in combination with the heterozygous deletion --^SEA might result in Hb Bart's hydrops fetalis, routine genetic assay, and SMRT were recommended to individuals at risk for prenatal diagnosis.