IthaID: 283
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 290 bp deletion | HGVS Name: | HBB:c.-176_92+25del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
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: | 70419 |
| Size: | 290 bp |
| Deletion involves: | β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Turkish, Bulgarian, Jordanian, Iranian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Diaz-Chico JC, Yang KG, Kutlar A, Reese AL, Aksoy M, Huisman TH, An approximately 300 bp deletion involving part of the 5' beta-globin gene region is observed in members of a Turkish family with beta-thalassemia., Blood, 70(2), 583-6, 1987
- Aulehla-Scholz C, Spiegelberg R, Horst J, A beta-thalassemia mutant caused by a 300-bp deletion in the human beta-globin gene., Human genetics, 81(3), 298-9, 1989
- Hamid M, Dawoody Nejad L, Shariati G, Galehdari H, Saberi A, Mohammadi-Anaei M, The First Report of a 290-bp Deletion in β-Globin Gene in the South of Iran., Iran. Biomed. J. , 2016
Created on 2010-06-16 16:13:15,
Last reviewed on 2016-09-06 16:18:23 (Show full history)
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