IthaID: 298
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Filipino | HGVS Name: | NC_000011.10:g.5112882 _5231358del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: ~45 kb deletion
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 66258 |
| Size: | 45 kb |
| Deletion involves: | β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Filipino |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Motum PI, Kearney A, Hamilton TJ, Trent RJ, Filipino beta zero thalassaemia: a high Hb A2 beta zero thalassaemia resulting from a large deletion of the 5' beta globin gene region., Journal of medical genetics, 30(3), 240-4, 1993
- Dimovski AJ, Baysal E, Efremov DG, Prior JF, Raven JL, Efremov GD, Huisman TH, A large beta-thalassemia deletion in a family of Indonesian-Malay descent., Hemoglobin, 20(4), 377-92, 1996
Created on 2010-06-16 16:13:15,
Last reviewed on 2013-10-15 17:28:32 (Show full history)
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