IthaID: 3270

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Chinese I (εγδβ)0 HGVS Name: NC_000011.10:g.5036736_5270337del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans 233.6 kb on the β-globin gene cluster, extending from the HBE1 gene to the olfactory receptor genes 3' to the HBB gene. (εγδβ)0-Thalassaemia was transmitted in an autosomal dominant manner with heterozygous deletion of genes across three generations.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: εγδβ-thalassaemia
Allele Phenotype:(εGγAγδβ)0
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 27279
Size: 233.6 kb
Deletion involves: ε, , , δ, β, pseudo β, OR51V1

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. Hui ASY, Au PKC, Ting YH, Kan ASY, Cheng YKY, Leung AWK, Chan KYK, Li CK, Tang MHY, Leung TY, First Report of a Novel Deletion Due to εγδβ-Thalassemia in a Chinese Family., Hemoglobin , 41(3), 175-179, 2017 PubMed
Created on 2017-10-02 19:22:11, Last reviewed on 2021-03-17 11:10:06 (Show full history)

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