IthaID: 1512
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Laotian (δβ)0 | HGVS Name: | NG_000007.3:g.(64336_64524)_76866del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: Thai (δβ)0-thal
Comments: The Laotian (δβ)0 thalassaemia deletion is approximately 12.5 kb in length with similar breakpoints to the Thai/Vietnamese (δβ)0 [ithaID=1513] deletion. The 5' breakpoint lies in the IVS-II of the δ-globin gene, localised 18 to 24 bp downstream of the Thai/Vietnamese breakpoint. The 3' breakpoint lies in an L1 repeat sequence between two PstI sites 4.7 kb 3’ of the β-globin gene, which is approximately 0.7 kb upstream from the Sicilian deletion breakpoint [ithaID=1507] similar to the Thai/Vietnamese deletion. The deletion breakpoints were localised by resctriction endonuclease mapping. Therefore, in the absence of breakpoint sequence information and given that the breakpoints lie in regions (AT-rich region-Alu and the L1 repeats) with propensity for higher recombination rate, there exists a possibility that the two deletions are different. The Laotian (δβ)0 thalassaemia deletion was found in a heterozygous state in a Laotian man with mild anaemia and elevated HbF (11.5%) with heterocellular distribution.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | GγAγ(δβ)0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 64336 |
| Size: | 12.531 kb |
| Deletion involves: | δ, β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Laotian, Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Zhang JW, Stamatoyannopoulos G, Anagnou NP, Laotian (delta beta) (0)-thalassemia: molecular characterization of a novel deletion associated with increased production of fetal hemoglobin., Blood, 72(3), 983-8, 1988
- Craig JE, Barnetson RA, Prior J, Raven JL, Thein SL, Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification., Blood, 83(6), 1673-82, 1994
- Tritipsombut J, Phylipsen M, Viprakasit V, Chalaow N, Sanchaisuriya K, Giordano PC, Fucharoen S, Harteveld CL, A single-tube multiplex gap-polymerase chain reaction for the detection of eight β-globin gene cluster deletions common in Southeast Asia., Hemoglobin, 36(6), 571-80, 2012