IthaID: 1527
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| 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: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
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.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | Gγ(Aγδβ)0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Chinese, Chinese Zhuang |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Frequencies
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)
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