IthaID: 4169
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 132 kb deletion | HGVS Name: | NC_000016.10:g.47840_180168del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: | Dongxing deletion |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Identified in a 23-year-old female in compound heterozygosity with -α4.2 [IthaID: 301], leading to microcytosis and hypochromia and the presence of Hb H and Hb Bart’s. The 132 kb deletion was detected using the Copy Number Variation Sequencing (CNV-seq) and encompasses the HBA1 and HBA2 genes, resulting in a phenotypic manifestation similar to that observed in the Southeast Asian (SEA) deletion.
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
Sequence Viewer
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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To the best of our knowledge, this is unpublished data.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 | 2025-11-14 | First report. |
Created on 2025-11-21 09:58:05,
Last reviewed on 2025-11-24 09:07:33 (Show full history)
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