IthaID: 2555
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | α12 | HGVS Name: | N/A |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: | HBA2 gene conversion |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The majority of individuals who were positive for the α12 allele had a reduction in the percentage of HbA2. The α12 allele was found in compound heterozygosity with --SEA [IthaID: 309] and Hb Quong Sze [IthaID: 408].
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | N/A |
| Fusion involves: | α2, α1 |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | Saudi Arabian, Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Borgio JF, AbdulAzeez S, Al-Nafie AN, Naserullah ZA, Al-Jarrash S, Al-Madan MS, Al-Muhanna F, Steinberg MH, Al-Ali AK, A novel HBA2 gene conversion in cis or trans: , Blood Cells Mol. Dis. , 53(4), 199-203, 2014
- Luo SQ, Chen XY, Tang N, Huang J, Zhong QY, Cai R, Yan TZ, Pedigree Analysis of Nonhomologous Sequence Recombination of and Genes., Hemoglobin, 44(5), 329-333, 2020
Created on 2015-06-16 16:54:03,
Last reviewed on 2021-11-30 16:02:28 (Show full history)
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