IthaID: 3997
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 7.2 kb deletion | HGVS Name: | NC_000011.10:g.5222800_5230034del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans 7.2 kb on the β-globin gene cluster, removing all of the HBB gene, and was initially reported as a heterozygote in a Chinese proband, a 32-year-old male with abnormal values of routine hematological indices. MLPA result showed the deletion across 10 probes targeting HBB gene (deletion probes involved 10 probes between hg38 loc. 11p15.4: 5224905-5229846, including HBB-up, HBB-1, HBB-1 (WT) c., HBB-Intr.1, HBB-Intr.2, HBB-3 and HBB-down regions). TGS result showed the exact length of the deletion was 7.2 Kb (Chr11:5222800-5230034, hg38) located at HBB gene. Gap-PCR and Sanger sequencing validated the deletion breakpoints.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 67582 |
| Size: | 7.235 kb |
| Deletion involves: | β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Zhong G, Zhong Z, Guan Z, Chen D, Wu Z, Yang K, Chen D, Liu Y, Xu R, Chen J, Case Report: The third-generation sequencing confirmed a novel 7.2 Kb deletion at β-globin gene in a patient with rare β-thalassemia., Front Genet, 13(0), 984996, 2022