IthaID: 3945



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 15.8 kb deletion HGVS Name: NC_000016.10:g.163886_179768del
Hb Name: N/A Protein Info: N/A

Also known as: NG_000006.1:g.24749_40631del

Comments: The deletion spans exactly 15.883 kb on the α-globin gene cluster as determined by long-read single-molecule real-time (SMRT) sequencing. The 5' breakpoint lies in the HBZP1 gene (Chr16:163886) and the 3' breakpoint lies between the HBA2 and HBQ1 genes (Chr16:179768), removing both functional α-globin genes, HBA2 and HBA1. The proband, a 37-year-old female, displayed abnormal values of routine hematological indices.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 24749
Size: 15.883 kb
Deletion involves: α2, α1, HBM

Other details

Type of Mutation: Deletion
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Zhong Z, Zhong G, Guan Z, Chen D, Wu Z, Yang K, Chen D, Liu Y, Xu R, Chen J, A novel 15.8 kb deletion α-thalassemia confirmed by long-read single-molecule real-time sequencing: Hematological phenotypes and molecular characterization., Clin Biochem, 2022 PubMed
Created on 2022-07-27 12:56:18, Last reviewed on 2023-01-19 13:05:33 (Show full history)

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