IthaID: 4014
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | αααα(159) | HGVS Name: | NC_000016.10:g.(63142_63147)_(222524_222529)dup |
Also known as:
Comments: The heterozygous tandem duplication region of approximately 159 kb was initially detected by NGS and its exact breakpoints were determined by PCR and Sanger sequencing between positions 63,142-63,147 (start) and 222,524-222,529 (end) (GRch38/hg38)). It includes the entire α-globin gene cluster, ranging from the RHBDF1 gene down to the LUC7L gene. The number of α globin genes is increased from four to six. It was found together with a β0 allele in a proband, a 4-year-old girl, with moderate anemia and jaundice, and a β-thalassemia intermedia diagnosis. Her mother was a heterozygous carrier for this duplication.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Duplication |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
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