IthaID: 3607
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 63 Kb deletion | HGVS Name: | NC_000016.10:g.(143655_149367)_(181204_206338)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The novel α0-thal deletion found in combination with the rightward –α3.7 deletion, causing Hb H disease in a 3-month-old female from India. The deletion removed HBA2 and HBA1 and spanned the region from HBZ to HBQ1, with the upstream major regulatory element HS-40 remaining intact. The 5’ breakpoint is localised between the positions 143655 and 149367 while the 3’ breakpoint is localized between 181204 and 206338 (coordinates: GRCh38.p13, NC_000016.10). As the breakpoints are not clearly defined the deletion size is just an approximation.
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: | 4518 |
| Size: | 62.682 kb |
| Deletion involves: | ζ, α2, α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Moore JA, Pullon BM, Drake KM, Brennan SO, Novel α-Thalassemia Deletion Identified in an Indian Infant with Hb H Disease., Hemoglobin, 44(4), 1-5, 2020
Created on 2020-08-07 10:49:00,
Last reviewed on 2020-08-10 11:14:09 (Show full history)
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