IthaID: 2419
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Senegalese δ(0)β(+) | HGVS Name: | NG_000007.3:g.(63154_63209)_(70570_70625)del7417 |
| Hb Name: | N/A | Protein Info: | deletion of 7417 nts from the δ gene to β gene |
Also known as:
Comments: The new δβ hybrid gene is expressed at low level, very likely due to the weak δ-globin promoter.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | β+ δ0 δβ fusion |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | N/A |
| Size: | 7.417 kb |
| Fusion involves: | δ, β |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | Senegalese, Mediterranean |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Otherwise, use this external link.
Publications / Origin
- Zertal-Zidani S, Ducrocq R, Weil-Olivier C, Elion J, Krishnamoorthy R, A novel delta beta fusion gene expresses hemoglobin A (HbA) not Hb Lepore: Senegalese delta(0)beta(+) thalassemia., Blood , 98(4), 1261-3, 2001 PubMed
- Griffon C, Joly P, Sénéchal A, Philit F, Francina A, Severe β-thalassemia intermedia in a compound heterozygous patient for the -30 (T>A) β(+)-thalassemia mutation and the δ(0)β(+)-Senegalese deletion., Hemoglobin , 34(5), 505-8, 2010 PubMed
- Saller E, Moradkhani K, Dutly F, Vinatier I, Préhu C, Frischknecht H, Goossens M, Comparison of two known chromosomal rearrangements in the δβ-globin complex with identical DNA breakpoints but causing different Hb A(2) levels., Hemoglobin , 36(2), 177-82, 2012 PubMed
Created on 2014-05-29 13:15:09,
Last reviewed on 2014-06-03 15:52:09 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-05-29 13:15:09 | The IthaGenes Curation Team | Created |
| 2 | 2014-06-03 15:52:09 | The IthaGenes Curation Team | Reviewed. Additional HbVar link, additional references and HGVS name added. |
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IthaGenes was last updated on 2024-11-20 13:24:07