IthaID: 318
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --SPAN | HGVS Name: | NC_000016.10:g.(169756_170100)_(179044_181595)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion was reported in a Spanish family with 4 members having α1-thalassaemia (--/αα) and 3 members having Hb H disease (--/-α). Restriction enzyme digestion was used to approximate positions of breakpoints. The 5’breakpoint is localised upstream of the HBA2 gene between the restriction enzyme sites HpaI (169756) and SstI (170100). The 3’ breakpoint is localised to a 2.5-kb region that harbors the HBQ1 gene between the restriction enzyme sites EcoRI (179044) and Asp718 (181595) (coordinates: GRCh38.p12, NC_000016.10). More evidence is needed to accurate whether or not the HBQ1 gene is deleted. 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: | 30619 |
| Size: | 11.839 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, Pérez Gutiérrez A, Díaz Mediavilla J, Espinos D, [Observations of alpha-thalasemia and hemoglobin h in spaniards (author's transl)]., Sangre (Barc), 24(6), 1088-102, 1979
- Villegas A, Calero F, Vickers MA, Ayyub H, Higgs DR, Alpha thalassaemia in two Spanish families., Eur. J. Haematol. , 44(2), 109-15, 1990