IthaID: 328
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --CANT | HGVS Name: | NC_000016.10:g.(168531_169756)_(182770_183028)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion was reported in a father and his two children from Northern Spain. They were clinically asymptomatic with a slight microcytic anaemia. Restriction enzyme digestion was used to approximate positions of breakpoints. The 5 ’breakpoint is localised upstream of the HBA2 gene, in a region that harbors the HBAP1 gene, between the restriction enzyme sites AccI (168531) and HpaI (169756). More evidence is needed to accurate whether or not the HBAP1 gene is deleted. The 3’ breakpoint is localized upstream of the HBQ1 gene, presumably between the restriction enzyme sites HindIII (182770) and BamHI (183028) (coordinates: GRCh38.p12, NC_000016.10). As the breakpoints are not clearly defined, the deletion size shown on the sequence viewer is just an approximation.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 29394 |
| Size: | 14.497 kb |
| Deletion involves: | α2, α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Spanish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Villegas A, Sanchez J, Ricard P, Gonzalez FA, Del Potro E, Armada B, Carreno DL, Espinos D, Characterization of a new alpha-thalassemia-1 mutation in a Spanish family., Hemoglobin , 18(1), 29-37, 1994