IthaID: 2150

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: 1357 bp deletion HGVS Name: NG_000007.3:g.69997_71353del1357
Hb Name: N/A Protein Info: N/A

Comments: The deletion spans 1357 bp on the β-globin gene cluster, removing the proximal part of the β-globin gene. The 5' breakpoint is located at -548 relative to the cap site of the β-globin gene and the 3' breakpoint is located at +810 in the intron II of the β-globin gene. Found as a heterozygote in a proband with elevated HbF and HbA2. The deletion of the β-globin gene promoter may upregulate the promoters of the γ-globin genes to react more readily with enhancer-like sequences that normally occur downstream of the β-globin gene.

External Links

No available links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 69997
Size: 1.357 kb
Deletion involves: β


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

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

Sequence Viewer

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Publications / Origin

  1. Huang CH, Chang YY, Chen CH, Ko TM, Molecular characterization of a beta-globin gene deletion of 1357 bp in a Taiwanese beta-thalassemia carrier., Hemoglobin, 32(5), 498-504, 2008 PubMed
Created on 2013-09-28 17:17:45, Last reviewed on 2019-04-09 09:13:37 (Show full history)

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