IthaID: 3294
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 22 kb deletion | HGVS Name: | NG_000006.1:g.20350_42078del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans approximately 22 kb on the α-globin gene cluster removing both α-globin genes. The 5' breakpoint is located within a region usptream of the HBZP pseudogene, and the 3' breakpoint is located within a region between the HBQ1 and LUC7L genes. It is similar to a deletion reported in [PMID: 20110179].
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: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 20350 |
| Size: | 21.729 kb |
| Deletion involves: | α2, α1, HBM |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Brazilian, Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Phylipsen M, Prior JF, Lim E, Lingam N, Vogelaar IP, Giordano PC, Finlayson J, Harteveld CL, Thalassemia in Western Australia: 11 novel deletions characterized by Multiplex Ligation-dependent Probe Amplification., Blood Cells Mol. Dis. , 44(3), 146-51, 2010
- Mota NO, Kimura EM, Ferreira RD, Pedroso GA, Albuquerque DM, Ribeiro DM, Santos MNN, Bittar CM, Costa FF, Sonati MF, Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients., Genet. Mol. Biol. , 40(4), 768-773, 2017
Created on 2018-01-09 19:02:34,
Last reviewed on 2022-01-24 17:48:01 (Show full history)
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