IthaID: 4015
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --259 | HGVS Name: | NC_000016.10:g.27301_286500del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The heterozygous deletion of approximately 259 kb includes the entire α-globin gene cluster. It was detected by NGS in the region chr16: 27,301–286,500 (hg38), but the exact breakpoints were not determined. The deletion was found together with α0-thalassemia (SEA deletion) in a lethal fetus with Hb Bart's hydrops fetalis syndrome. The mother and grandmother of the fetus were heterozygous carriers for this deletion.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
- Zhu D, Xu L, Zhang Y, Liang G, Wei X, Li L, Jin W, Shang X, Investigation of the mechanism of copy number variations involving the α-globin gene cluster on chromosome 16: two case reports and literature review., Mol Genet Genomics, 298(1), 131-141, 2023 PubMed
Created on 2023-02-07 10:39:21,
Last reviewed on 2023-02-07 11:32:21 (Show full history)
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