IthaID: 313
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --MED II | HGVS Name: | NG_000006.1:g.(7740_9712)_(39907_41156)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans more than 26.5 kb on the α-globin gene cluster, removing all but the HBQ1 gene. Breakpoints were determined by restriction mapping. The 5′ breakpoint is localised upstream of the HBZ gene between the restriction enzyme sites KpnI (146877) and EcoRI (148849). The 3’ breakpoint is localised to a 1.2-kb region upstream from the HBQ1 gene between the restriction enzyme sites EcoRI (179044) and BamHI (180293). Using the SALSA MLPA® Probemix P140-C1 HBA kit, the immediate 5' and 3' MLPA probe pairs (04926-L23886 and 04639-L04020) are located at positions 143638-143702 (9.2 kb before HBZ) and 179746-179815 (2.3 kb after HBA1). As the breakpoints are not clearly defined, the deletion size shown on sequence viewer is just an approximation. Coordinates: GRCh38.p13, NC_000016.10
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: | 8726 |
| Size: | 31.8 kb |
| Deletion involves: | ζ, α2, α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Mediterranean |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Kutlar F, Gonzalez-Redondo JM, Kutlar A, Gurgey A, Altay C, Efremov GD, Kleman K, Huisman TH, The levels of zeta, gamma, and delta chains in patients with Hb H disease., Human genetics, 82(2), 179-86, 1989
- Harteveld KL, Losekoot M, Fodde R, Giordano PC, Bernini LF, The involvement of Alu repeats in recombination events at the alpha-globin gene cluster: characterization of two alphazero-thalassaemia deletion breakpoints., Hum. Genet. , 99(4), 528-34, 1997