IthaID: 3792
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | N/A | HGVS Name: | NG_000007.3:g.63154_70565del |
| Hb Name: | Hb Lepore-Hong Kong | Protein Info: | δβ hybrid (δ through CAP site; β through CAP site) |
Also known as:
Comments: Found in a heterozygote case presented with permanent microcytic hypochromia anaemia and elevated level of HbF (6.5%).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | β0 δβ fusion |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 63154 |
| Size: | 7.411 kb |
| Fusion involves: | δ, β |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Jiang F, Tang XW, Li J, Zhou JY, Zuo LD, Li DZ, Hb Lepore-Hong Kong: First Report of a Novel δ/β-Globin Gene Fusion in a Chinese Family., Hemoglobin, 2021
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Dong-Zhi | 2021-06-05 | First report. |
Created on 2021-06-07 08:14:00,
Last reviewed on 2021-10-13 12:35:35 (Show full history)
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