IthaID: 4178
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Bhutan-Nepal β-thal deletion | HGVS Name: | NG_000007.3:g.64637_72002del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The δβ fusion gene identified in six individuals from Bhutan and Nepal. Molecular characterization demonstrated that the δβ hybrid gene encodes an amino acid sequence identical to that of the HBD gene product. Consequently, carriers of this deletion exhibit a β-thalassemia trait phenotype, with an unusually elevated Hb A₂ levels (6.0–8.6%) and mildly increased Hb F levels (2.4–6.7%).
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | (β)0 |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 64637 |
| Size: | 7.365 kb |
| Fusion involves: | δ, β |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | Bhutan, Nepal |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Waye, John S. | 2026-02-12 | First report. |
Created on 2026-02-13 09:13:37,
Last reviewed on (Show full history)
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