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
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
- 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
- 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
- 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
- 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
- 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
- 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
Created on 2010-06-16 16:13:17,
Last reviewed on 2022-02-01 19:03:45 (Show full history)
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