IthaID: 2237
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --AW | HGVS Name: | NG_000006.1:g.32143_40317delinsCTCCCTGGACAAGT |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The deletion covers 8.2 kb, removing both α-globin genes. The 5' breakpoint is located at position 161279, and the 3' breakpoint is located at position 169453 (UCSC Genome Browser, March 2006). The deletion is caused by a non-homologous recombination event between an Alu and an L1-repeat sequence.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 8174 kb |
| Deletion involves: | α2, α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Dutch |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Phylipsen M, Vogelaar IP, Schaap RA, Arkesteijn SG, Boxma GL, van Helden WC, Wildschut IC, de Bruin-Roest AC, Giordano PC, Harteveld CL, A new alpha(0)-thalassemia deletion found in a Dutch family (--(AW))., Blood Cells Mol. Dis. , 45(2), 133-5, 2010
Created on 2013-10-03 15:27:40,
Last reviewed on 2018-01-15 17:17:16 (Show full history)
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