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nstd221 (Bao et al. 2022b)

Study Type:
Xiuqin Bao
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.

Detailed Information: Download 4 Variant Regions, Download 4 Variant Calls, Download Both, FTP

Variant Summary

Assembly used for analysis:
Submitted: GRCh38 (hg38)
Remapped: GRCh37 (hg19)

Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult


Number of Samplesets: 1

Homo sapiens
Sampleset Phenotype(s):
None reported
  • Download Samples as CSV file
  • Samples for sampleset 1
    Sample IDSubject ID Subject Phenotype
    WYRWYRNot reported
    FXHFXHNot reported
    WGWGNot reported
    LYBLYBNot reported

    Experimental Details

    Experiment IDTypeMethodAnalysisNumber of Variant Calls
    1DiscoverySequencingSequence alignment4


    No validation data were submitted for this study.

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