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: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The new δβ hybrid gene is expressed at low level, very likely due to the weak δ-globin promoter.
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
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
- 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
- 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
Created on 2014-05-29 13:15:09,
Last reviewed on 2014-06-03 15:52:09 (Show full history)
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