IthaID: 4120
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --LB | HGVS Name: | NC_000016.10:g.(?_47217)_(181171_206303)del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Found in a 20-year-old Chinese male presented with microcytic hypochromatosis. The deletion was detected by MLPA analysis and removed the entire HBA2, HBA1, HBQ and HBZ gene, as well as the major regulatory element HS-40, resulting in the loss of more than 134 kb from the a-globin chain. The exact breakpoints were not determined, as MLPA failed to identify an upstream break location. Pedigree analysis revealed that the proband inherited the novel deletion from his father.
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: | No |
In silico pathogenicity prediction
Publications / Origin
- Ye LH, Huang YY, Zhu ZT, Jiang AQ, Shen XL, Liang L, Li YQ, α-Thalassemia Caused by a Novel α-Globin Gene Cluster Deletion (-) Found in a Chinese Family., Hemoglobin, 48(5), 341-345, 2024
Created on 2025-01-10 10:24:36,
Last reviewed on 2025-01-10 10:33:04 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.