IthaID: 1527
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
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Common Name: | Chinese (Aγδβ)0 | HGVS Name: | NC_000011.10:g.5169918_5248821del |
Hb Name: | N/A | Protein Info: | deletion of 78904 nts from the Aγ gene to β gene |
Also known as:
Comments: The deletion spans about 80 kb and starts with its 5′ breakpoint in the intron II of the Αγ-globin gene and the 3′ breakpoint far downstream to the β-globin gene, also removing enhancer-like sequences that are normally found 53 kb 3′ of the β-globin gene. In other forms of (Aγδβ)0-thalassaemia (e.g., Yunnanese (Aγδβ)0 [IthaID: 1528]), the deletion brings these enhancer-like sequences near to the γ-globin genes, resulting in higher HbF expression. The homozygotes for the Chinese (Aγδβ)0 have less efficient γ-globin production, presenting with severe anaemia.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
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Hemoglobinopathy Subgroup: | δβ-thalassaemia |
Allele Phenotype: | Gγ(Aγδβ)0 |
Associated Phenotypes: | N/A |
Other details
Type of Mutation: | Deletion |
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Ethnic Origin: | Chinese, Chinese Zhuang |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Mann JR, MacNeish AS, Bannister D, Clegg JB, Wood WG, Weatherall DJ, Delta-beta-thalassaemia in a Chinese family., Br. J. Haematol., 23(4), 393-402, 1972 PubMed
- Jones RW, Old JM, Trent RJ, Clegg JB, Weatherall DJ, Restriction mapping of a new deletion responsible for G gamma (delta beta)o thalassemia., Nucleic acids research, 9(24), 6813-25, 1981 PubMed
- Mager DL, Henthorn PS, Smithies O, A Chinese G gamma + (A gamma delta beta)zero thalassemia deletion: comparison to other deletions in the human beta-globin gene cluster and sequence analysis of the breakpoints., Nucleic Acids Res. , 13(18), 6559-75, 1985 PubMed
- He S, Wei Y, Lin L, Chen Q, Yi S, Zuo Y, Wei H, Zheng C, Chen B, Qiu X, The prevalence and molecular characterization of (δβ)(0) -thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population., J. Clin. Lab. Anal. , 2017 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2022-10-13 15:53:08 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
3 | 2014-04-09 09:55:24 | The IthaGenes Curation Team | Reviewed. |
4 | 2017-09-07 18:38:39 | The IthaGenes Curation Team | Reviewed. Other Details section updated. Reference added. |
5 | 2019-04-09 08:42:20 | The IthaGenes Curation Team | Reviewed. Comment added. |
6 | 2019-12-12 09:34:31 | The IthaGenes Curation Team | Reviewed. |
7 | 2022-10-13 15:53:08 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. |
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IthaGenes was last updated on 2024-12-12 10:33:52