IthaID: 3270



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Chinese I (εγδβ)0 HGVS Name: NC_000011.9:g.5057966_5291566del
Hb Name: N/A Protein Info: N/A

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.

External Links

No available links

Location

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

Phenotype

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

Other details

Type of Mutation: Deletion
Ethnic Origin: Chinese
Inheritance: N/A
DNA Breakpoint Determined: Yes
Detection Methods: MLPA

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 (Show full history)

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