IthaID: 3393



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: 3.5 kb deletion HGVS Name: NC_000011.10:g.5224302-5227791del3490bp
Hb Name: N/A Protein Info: N/A

Comments: The deletion spans approximately 3.5 kb on the β-globin gene cluster, removing the β-globin gene promoter and the whole β-globin gene. The 5' and 3' breakpoints are located at positions 5224302 and 5227791, respectively (GRCh37/hg19). Co-inheritance with a β+ mutation led to a severe transfusion-dependent anemia.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 3.5 kb
Deletion involves: β

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

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

Sequence Viewer

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Publications / Origin

  1. He S, Qin Q, Lin L, Zuo Y, Chen Q, Wei H, Zheng C, Chen B, Qiu X, First Identification of the 3.5 kb Deletion (NC_000011.10: g.5224302-5227791del3490bp) on the β-Globin Gene Cluster in a Chinese Family., Hemoglobin, 42(4), 272-275, 2018 PubMed
Created on 2019-04-08 16:09:58, Last reviewed on 2019-04-08 16:17:22 (Show full history)

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