IthaID: 4188
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --219 kb | HGVS Name: | NC_000016.10:g.30357_249981del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: | Wuzhou deletion, --WZ |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Identified in a 23-year-old female presenting with microcytosis and hypochromia. The deletion encompasses the entire POLR3K, HBZ, HBM, HBA2, HBA1 and HBQ genes. The 5′ breakpoint is located upstream of POLR3K, whereas the 3′ breakpoint lies within the FAM234A and upstream of AXIN1.
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
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Youqiong | 2026-06-22 | First report. |
Created on 2026-06-26 11:06:00,
Last reviewed on 2026-06-26 11:22:54 (Show full history)
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