IthaID: 3390
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | βδβ hybrid | HGVS Name: | N/A |
| Hb Name: | Hb Palencia | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: A β-like globin chain composed of an internal δ-globin fragment and β-globin N-terminal and C-terminal sequences. The βδβ hybrid gene comprises both the promoter region and the IVS-II of the HBB gene, and its synthesis is like that of β-globin. The δ sequence bears mutations that could confer it with anti-sickling properties. It is most likely the result of a cross-linking between a Lepore-type gene and an HBB gene. Detected during a routine health check in an otherwise asymptomatic individual.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | δβ fusion |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | N/A |
| Size: | N/A |
| Fusion involves: | δ, β |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | Spanish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Nieto JM, González FA, Alonso JM, Golvano E, Guerrero L, Albarrán B, Villegas A, Martínez RB, Ropero P, Hb Palencia: a novel δβδ-type two-way fusion variant with β-globin-like expression levels., J. Clin. Pathol., 72(1), 46-51, 2019
Created on 2019-04-08 14:40:58,
Last reviewed on 2019-05-02 16:54:13 (Show full history)
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