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: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
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.
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
- Li W, Guo ZY, Xiu ZH, Long M, Xiao Y, Liu LY, Chen YC, Zeng SF, Zhang J, Zhang M, A rare -α27.6 deletion compounded with the hemoglobin constant spring mutation identified in a Chinese couple., Hematology, 30(1), 2485694, 2025
Created on 2013-10-03 11:28:19,
Last reviewed on 2025-04-23 09:36:53 (Show full history)
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