IthaID: 1528
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Yunnanese (Aγδβ)0 | HGVS Name: | NC_000011.10:g.5182845_5249973del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans approximately 90 kb of DNA, removing the Aγ, δ, and β-globin genes. The 5' breakpoint is located about 116 bp usptream of the cap site of the Aγ-globin gene promoter and the 3' breakpoint is located about 66 kb downstream of the β-globin gene (~12.7 kb upstream of the 3' deletion breakpoint of the Chinese (Aγδβ)0-thalassemia [IthaID: 1527]). Carriers express 9%-17% of HbF, whereas homozygotes present with a mild anaemia. The 3' breakpoint occurs within a rearranged L1 sequence that normally occurs downstream of the β-globin gene. This could result in the juxtaposition of enhancer sequences in the vicinity of the Gγ globin gene.
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 |
| 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
- Zhang JW, Song WF, Zhao YJ, Wu GY, Qiu ZM, Wang FN, Chen SS, Stamatoyannopoulos G, Molecular characterization of a novel form of (A gamma delta beta)zero thalassemia deletion in a Chinese family., Blood, 81(6), 1624-9, 1993 PubMed
- Zhang XQ, Zhang JW, The 3' breakpoint of the yunnanese (Agammadeltabeta)0-thalassemia deletion lies in an L1 family sequence: implications for the mechanism of deletion and the reactivation of the Ggamma-globin gene., Hum. Genet., 103(1), 90-5, 1998 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2019-04-08 17:14:05 (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 | 2014-06-04 10:37:26 | The IthaGenes Curation Team | Reviewed. HbVar link added. |
| 4 | 2019-04-08 17:14:05 | The IthaGenes Curation Team | Reviewed. Comment and Reference added. |
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IthaGenes was last updated on 2023-03-21 16:15:18