IthaID: 3994

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 10.3 kb deletion HGVS Name: NC_000016.10:g.172342_182690del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans approximately 10.3 kb on the α-globin gene cluster, covering HBA2, HBA1 and HBAQ1 genes. Identified in two families from China by third-generation sequencing (TGS), and validated by Sanger sequencing and MLPA.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33205
Size: 10.349 kb
Deletion involves: α2, α1

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. Xu R, Li H, Yi S, Du J, Jin J, Qin Y, Jiang Y, Gao T, Zhang C, Yi M, Liu Y, Meng W, Li J, Song J, Identification of a novel 10.3 kb deletion causing α-thalassemia by the third-generation sequencing: pedigree analysis and genetic diagnosis., Clin Biochem, 2023 PubMed
Created on 2023-01-12 09:24:06, Last reviewed on 2024-02-08 14:26:42 (Show full history)

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