IthaID: 4147
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 21.9 kb deletion | HGVS Name: | NC_000011.10:g.5225669_5247554del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: | Heyuan deletion |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Identified in a 25-year-old female, presented with normal haematological indices but elevated HbF levels during routine prenatal screening. The deletion spans approximately 21.9 kb of the β-globin gene locus, encompassing the entire HBD gene and nearly the entire HBB gene. Following initial detection by MLPA, the deletion breakpoints were precisely mapped using third-generation sequencing (TGS) and subsequently confirmed through Gap-PCR analysis.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 50062 |
| Size: | 21.886 kb |
| Deletion involves: | δ, β, pseudo β |
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
- Liao H, Liang L, Chen X, Zheng Y, Huang Y, Li Y, An Unexpected Finding of a Novel 21.9 kb Deletion (Heyuan deletion, β21.9kb) β-Thalassemia During HbA1c Measurements., Clin Lab, 71(4), 0, 2025 PubMed
Created on 2025-04-14 07:26:08,
Last reviewed on 2025-04-14 07:36:13 (Show full history)
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