IthaID: 3603
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α6.9 | HGVS Name: | NG_000006.1:g.29785_36746del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The deletion spans approximately 6.9 kb on the alpha-globin gene cluster, removing the α2 gene but leaving the α1 gene intact. The 5' deletion breakpoint lies in the HBAP1 gene. Deletion breakpoints were determined by MLPA and Gap-PCR analyses. Reported in a compound heterozygous state with --SEA deletion in a proband presenting with HbH disease.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 29785 |
| Size: | 6.962 kb |
| Deletion involves: | α2 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Zhuang J, Tian J, Wei J, Zheng Y, Zhuang Q, Wang Y, Xie Q, Zeng S, Wang G, Pan Y, Jiang Y, Molecular analysis of a large novel deletion causing α-thalassemia., BMC Med. Genet., 20(1), 74, 2019
Created on 2020-07-10 12:03:57,
Last reviewed on 2020-08-10 13:35:55 (Show full history)
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