IthaID: 2150
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 1357 bp deletion | HGVS Name: | NG_000007.3:g.69997_71353del1357 |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: Taiwanese deletion
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.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 69997 |
| Size: | 1.357 kb |
| Deletion involves: | β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Taiwanese, Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- 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
- Lou JW, Li Q, Wei XF, Huang JW, Xu XM, Identification of the linkage of a 1.357 KB beta-globin gene deletion and A gamma-globin gene triplication in a Chinese family., Hemoglobin, 34(4), 343-53, 2010
- Cai WJ, Li J, Xie XM, Li DZ, Screening for common β-globin gene cluster deletions in Chinese individuals with increased hemoglobin F., Int J Lab Hematol, 37(6), 752-7, 2015
Created on 2013-09-28 17:17:45,
Last reviewed on 2020-01-17 11:20:28 (Show full history)
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