IthaID: 4095
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --Guigang (145 kb deletion) | HGVS Name: | NC_000016.10:g.127815_273190del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The 145 kb deletion found in a Chinese (Guigang) boy by third-generation sequencing on the α-globin chain and its breakpoints were confirmed by Sanger sequencing analysis. Capillary electrophoresis of the cord blood showed high Hb Bart’s (γ4) level (3%). The large deletion removed the entire α-globin locus and expand from NPRL3 to RGS11 genes.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
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Publications / Origin
- Guo J, Li T, Liang L, Wei W, Li Y, Guo W, Li Y, Identification of a novel 145 kb deletion (Guigang deletion, -) in the alpha-globin gene cluster from a Chinese newborn using third-generation sequencing., Hematology, 29(1), 2412949, 2024 PubMed
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Youqiong | 2024-03-27 | First report. |
Created on 2024-03-28 09:17:36,
Last reviewed on 2024-11-18 12:44:42 (Show full history)
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