IthaID: 3394



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: 223 kb deletion HGVS Name: NC_000011.9:g.5031238_5254163del
Hb Name: N/A Protein Info: N/A

Comments: The deletion spans 223 kb on the β-globin gene cluster, extending from the 3′UTR of the δ-globin gene to 215 kb downstream of the β-globin gene. Analysis method: SALSA MLPA P102 HBB kit (MRC Holland).

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 223 kb
Deletion involves: δ, β

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: N/A

Other details

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

Sequence Viewer

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Publications / Origin

  1. Zhu F, Wei X, Cai D, Pang D, Zhong J, Liang M, Zuo Y, Xu X, Shang X, A novel 223 kb deletion in the beta-globin gene cluster was identified in a Chinese thalassemia major patient., Int J Lab Hematol, 2019 PubMed
Created on 2019-04-09 11:02:03, Last reviewed on 2019-04-12 13:31:18 (Show full history)

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