IthaID: 2232
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α27.6 | HGVS Name: | NG_000006.1:g.9079_36718del27640 |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans 27.6 kb on the α-globin gene cluster and involves deletion of the HBA2 gene, causing deficient α-globin production. The 5' breakpoint was at 9,079 bp and the 3' breakpoint at 36,718 bp.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 9079 |
| Size: | 27.64 kb |
| Deletion involves: | ζ, α2 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Wei XF, Shang X, He DQ, Huang JW, Zhang XH, Xu XM, Molecular characterization of a novel 27.6-kb deletion causing α(+) thalassemia in a Chinese family., Ann. Hematol. , 90(1), 17-22, 2011
- Wang XY, Lin MX, Lin M, A novel 6.3 kb deletion and the Rare 27.6 kb Deletion Causing α(+)-Thalassemia in two Chinese Patients., Hemoglobin , 40(5), 365-368, 2016
Created on 2013-10-03 11:28:19,
Last reviewed on 2017-01-17 11:22:47 (Show full history)
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