nstd221 (Bao et al. 2022b)
- Organism:
- Human
- Study Type:
- Collection
- Submitter:
- Xiuqin Bao
- Description:
- β-thalassemia is a highly prevalent disease in Southern China and tropical and subtropical regions, which is mainly caused by point mutations in β-globin gene cluster. However, large deletions were also identified to contribute to some types of β-thalassemia. We have identified a novel 5 kb deletion in β-globin cluster in a Chinese patient by using multiplex ligation-dependent probe amplification and characterized it by single molecule real time sequencing, Gap-PCR and Sanger sequencing. The deletion was located between 5226189-5231091 in chromosome 11 (GRCh38), extending from 4 kb upstream of 5’UTR to the second intron of HBB gene. With this deletion, the patient presented with microcytosis and hypochromic red cells, as well as relatively high Hb F and Hb A2 level. Our research points out that single molecule real time sequencing is a useful tool to detect large deletions accurately. Our study widens the spectrum of deletional β-thalassemia and provides a perspective for further study of the function of β-globin cluster. See Variant Summary counts for nstd221 in dbVar Variant Summary.