IthaID: 3886
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | (αα)107kb deletion | HGVS Name: | NC_000016.10:g.44082_151511del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans approximately 107 kb on the α-globin gene cluster, removing the regulatory element HS-40 but leaving the two α-globin genes intact. Detected in a Chinese proband, 30-year-old female, with mild anemia, by third-generation sequencing, after MLPA failed because that the upstream breakpoint was out of probe scope. The exact breakpoints were validated by Gap-PCR and Sanger sequencing. Sanger sequencing confirmed the breakpoint in chr16:44082-151511 (GRch38/hg38), indicating that the deletion was 107,429 bp. The haematological characteristics of the deletion were very similar to the --SEA deletion.
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: | 107.429 kb |
| Deletion involves: | HS40, NPRL3 |
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
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Youqiong | 2022-01-05 | First report. |