IthaID: 4073
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | (αα)FJ | HGVS Name: | NC_000016.10:g.39268_130758del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: --FJ
Comments: The deletion is about 91.5-kb in length and removes the HS40 regulatory element of the α-globin gene cluster. The proband carried this deletion in the heterozygous state and presented with mild microcytic hypochromic anemia.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 91.5 kb |
| Deletion involves: | HS40 |
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
- Xu L, Chen M, Zheng J, Zhang S, Zhang M, Chen L, He Q, Guo D, Lin N, Huang H, Identification of a novel 91.5 kb-deletion (αα) in the α-globin gene cluster using single-molecule real-time (SMRT) sequencing., J Matern Fetal Neonatal Med, 36(2), 2254890, 2023
Created on 2023-10-02 16:54:26,
Last reviewed on 2024-02-12 12:48:01 (Show full history)
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