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 |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
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.
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
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
- 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
Created on 2023-01-12 10:53:21,
Last reviewed on 2024-10-17 15:51:44 (Show full history)
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