IthaID: 3945
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 15.8 kb deletion | HGVS Name: | NC_000016.10:g.163886_179768del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: | NG_000006.1:g.24749_40631del |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The deletion spans exactly 15.883 kb on the α-globin gene cluster as determined by long-read single-molecule real-time (SMRT) sequencing. The 5' breakpoint lies in the HBZP1 gene (Chr16:163886) and the 3' breakpoint lies between the HBA2 and HBQ1 genes (Chr16:179768), removing both functional α-globin genes, HBA2 and HBA1. The proband, a 37-year-old female, displayed abnormal values of routine hematological indices.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 24749 |
| Size: | 15.883 kb |
| Deletion involves: | α2, α1, HBM |
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
- Zhong Z, Zhong G, Guan Z, Chen D, Wu Z, Yang K, Chen D, Liu Y, Xu R, Chen J, A novel 15.8 kb deletion α-thalassemia confirmed by long-read single-molecule real-time sequencing: Hematological phenotypes and molecular characterization., Clin Biochem, 2022
Created on 2022-07-27 12:56:18,
Last reviewed on 2023-01-19 13:05:33 (Show full history)
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