IthaID: 1507
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Sicilian (δβ)0 | HGVS Name: | NG_000007.3:g.64336_77738del |
| Hb Name: | N/A | Protein Info: | deletion of 13378 nts from the δ gene to β gene |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | GγAγ(δβ)0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 64336 |
| Size: | 13.403 kb |
| Deletion involves: | δ, β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Mediterranean, Egyptian, Asian Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
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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Frequencies
Publications / Origin
- Fritsch EF, Lawn RM, Maniatis T, Characterisation of deletions which affect the expression of fetal globin genes in man., Nature , 279(5714), 598-603, 1979 PubMed
- Ottolenghi S, Giglioni B, Comi P, Gianni AM, Polli E, Acquaye CT, Oldham JH, Masera G, Globin gene deletion in HPFH, delta (o) beta (o) thalassaemia and Hb Lepore disease., Nature , 278(5705), 654-7, 1979 PubMed
- Henthorn PS, Smithies O, Mager DL, Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints., Genomics, 6(2), 226-37, 1990 PubMed
- Craig JE, Barnetson R, Weatherall DJ, Thein SL, Rapid detection of a 13.4-kb deletion causing delta beta thalassemia in an Egyptian family by polymerase chain reaction., Blood , 81(3), 861-3, 1993 PubMed
- Pissard S, Raclin V, Lacan P, Garcia C, Aguilar-Martinez P, Francina A, Joly P, Characterization of three new deletions in the β-globin gene cluster during a screening survey in two French urban areas., Clin. Chim. Acta , 415(1), 35-40, 2013 PubMed
- Siedlecki KL, Salthouse TA, Oishi S, Jeswani S, The Relationship Between Social Support and Subjective Well-Being Across Age., Soc Indic Res, 117(2), 561-576, 2014 PubMed
- Aygun B, Bello A, Thompson AA, Davis L, Sun Y, Luo HY, Cui S, Chui DHK, Clinical phenotypes of three children with sickle cell disease caused by HbS/Sicilian (δβ) -thalassemia deletion., Am J Hematol, 2022 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2022-02-01 19:03:45 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-09 09:37:05 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2015-06-30 15:46:25 | The IthaGenes Curation Team | Reviewed. Allele phenotype corrected. |
| 5 | 2020-01-15 15:04:42 | The IthaGenes Curation Team | Reviewed. Reference added |
| 6 | 2022-02-01 19:02:24 | The IthaGenes Curation Team | Reviewed. Chromosomal location corrected. |
| 7 | 2022-02-01 19:03:45 | The IthaGenes Curation Team | Reviewed. Reference and Origin added. |
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IthaGenes was last updated on 2024-10-08 13:09:20