Case report: A novel 10.8-kb deletion identified in the β-globin gene through the long-read sequencing technology in a Chinese family with abnormal hemoglobin testing results

Background Thalassemia is a common inherited hemoglobin disorder caused by deficiency of one or more globin subunits. Substitution variants and deletions in the HBB gene are major causes β-thalassemia, which large fragment rare difficult to be detected conventional polymerase chain reaction (PCR)-based methods. Case report In this study, we reported 26-year-old Han Chinese man, whose routine blood parameters were found abnormal. Hemoglobin testing was performed on proband his family members, whom only proband's mother had normal parameters. The comprehensive analysis thalassemia alleles (CATSA, long-read sequencing-based approach) identify causative variants. We finally novel 10.8-kb deletion including β-globin ( ) (Chr11:5216601-5227407, GRch38/hg38) father brother, consistent with their results. copy number exact breakpoints confirmed multiplex ligation-dependent probe amplification (MLPA) gap-polymerase (Gap-PCR) as well Sanger sequencing, respectively. Conclusion With China, expand genotype spectrum β-thalassemia show advantages sequencing (LRS) for precise detection