IthaID: 3996
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 4.9 Kb deletion | HGVS Name: | NC_000011.10:g.5226187_5231089del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: NG_000007.3:g.71429_76331del
Comments: The deletion spans approximately 4.9 kb on the β-globin gene cluster, removing the HBB gene. It was initially identified in a 27-year-old Chinese female with abnormal routine hematological indices using third-generation sequencing (TGS) and was validated by MLPA. The deletion was also detected in trans with another β-thalassemia allele, confirmed by TGS, leading to a transfusion-dependent thalassemia phenotype.
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: | Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71429 |
| Size: | 4.903 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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Chen X, Luo M, Pan L, Huang Y, Yan Z, Shen K, Mai G, Liang H, Li J, Chen Y, Xiong L, A novel 4.9 Kb deletion at beta-globin gene is identified by the third-generation sequencing: Case report from Baoan, China., Clin Chim Acta, 529(0), 10-16, 2022 PubMed
- Ren ZM, Li WJ, Xing ZH, Fu XY, Zhang JY, Chen YS, Li DF, Detecting rare thalassemia in children with anemia using third-generation sequencing., Hematology, 28(1), 2241226, 2023 PubMed
Created on 2023-01-12 10:53:21,
Last reviewed on 2024-10-17 15:51:44 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2023-01-12 10:53:21 | The IthaGenes Curation Team | Created |
| 2 | 2024-02-12 15:36:31 | The IthaGenes Curation Team | Reviewed. HGVS name and stand corrected. |
| 3 | 2024-10-17 15:51:44 | The IthaGenes Curation Team | Reviewed. Reference added, Comment updated |
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IthaGenes was last updated on 2024-10-29 15:59:14