IthaID: 3994
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 10.3 kb deletion | HGVS Name: | NC_000016.10:g.172342_182690del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans approximately 10.3 kb on the α-globin gene cluster, covering HBA2, HBA1 and HBAQ1 genes. Identified in two families from China by third-generation sequencing (TGS), and validated by Sanger sequencing and MLPA.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 33205 |
| Size: | 10.349 kb |
| Deletion involves: | α2, α1 |
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
- Xu R, Li H, Yi S, Du J, Jin J, Qin Y, Jiang Y, Gao T, Zhang C, Yi M, Liu Y, Meng W, Li J, Song J, Identification of a novel 10.3 kb deletion causing α-thalassemia by the third-generation sequencing: pedigree analysis and genetic diagnosis., Clin Biochem, 2023
Created on 2023-01-12 09:24:06,
Last reviewed on 2024-02-08 14:26:42 (Show full history)
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