IthaID: 4139
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Thai δβ0-thal (137.1 kb del) | HGVS Name: | NC_000011.10:g.5096853_5234005del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: | NG_000007.3:g.63611_200762del |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The 137.1 kb deletion removes the HBB gene. It starts from exon II of the HBD gene through OR52J1P-OR52E3P located downstream of the β-globin gene cluster down to olfactory receptor genes. It was detected in trans to the Hb E and was associated with mild thalassemia intermedia phenotype. The deletion was characterized using combined MLPA, NGS, GAP-PCR, and DNA sequencing.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | GγAγ(δβ)0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Singha K, Tepakhan W, Yamsri S, Chaibunruang A, Srivorakun H, Pansuwan A, Fucharoen G, Fucharoen S, A large cohort of deletional high hemoglobin F determinants in Thailand: A molecular revisited and identification of a novel mutation., Clin Chim Acta, 551(0), 117615, 2023
Created on 2025-03-13 14:38:23,
Last reviewed on (Show full history)
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