IthaID: 1506
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Indian (δβ)0 | HGVS Name: | NC_000011.10:g.5214461_5247124del |
| Hb Name: | N/A | Protein Info: | deletion of 32624 nts from the δ gene to β gene |
| Also known as: | 32.6 kb GγΑγ(δβ)0 Indian del |
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: | 50492 |
| Size: | 32.664 kb |
| Deletion involves: | δ, β, pseudo β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Mishima N, Landman H, Huisman TH, Gilman JG, The DNA deletion in an Indian delta beta-thalassaemia begins one kilobase from the A gamma globin gene and ends in an L1 repetitive sequence., British journal of haematology, 73(3), 375-9, 1989
- Gilman JG, Brinson EC, Mishima N, The 32.6 kb Indian delta beta-thalassaemia deletion ends in a 3.4 kb L1 element downstream of the beta-globin gene., Br. J. Haematol. , 82(2), 417-21, 1992
- Mayuranathan T, Rayabaram J, Das R, Arora N, Edison ES, Chandy M, Srivastava A, Velayudhan SR, Identification of rare and novel deletions that cause (δβ)(0) -thalassaemia and hereditary persistence of foetal haemoglobin in Indian population., Eur. J. Haematol. , 92(6), 514-20, 2014
Created on 2010-06-16 16:13:17,
Last reviewed on 2022-02-23 14:30:39 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.