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 |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
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
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
Sequence Viewer
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
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 PubMed
- 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 PubMed
- 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 PubMed
Created on 2013-09-28 17:17:45,
Last reviewed on 2020-01-17 11:20:28 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.