IthaID: 286
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 619 bp deletion | HGVS Name: | NG_000007.3:g.71609_72227del619 |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: | Asian Indian |
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: | 71609 |
| Size: | 619 bp |
| Deletion involves: | β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Asian Indian, Pakistani |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Orkin SH, Old JM, Weatherall DJ, Nathan DG, Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia., Proceedings of the National Academy of Sciences of the United States of America, 76(5), 2400-4, 1979
- Orkin SH, Kolodner R, Michelson A, Husson R, Cloning and direct examination of a structurally abnormal human beta 0-thalassemia globin gene., Proceedings of the National Academy of Sciences of the United States of America, 77(6), 3558-62, 1980
- Baysal E, Sharma S, Wong SC, Jogessar VB, Huisman TH, Distribution of beta-thalassemia mutations in three Asian Indian populations with distant geographical locations., Hemoglobin, 18(3), 201-9, 1994
- Yasmeen H, Toma S, Killeen N, Hasnain S, Foroni L, The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population., Eur J Med Genet , 59(8), 355-62, 2016
Created on 2010-06-16 16:13:15,
Last reviewed on 2020-08-11 14:05:40 (Show full history)
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