IthaID: 3440
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -αMAL3.5 | HGVS Name: | NG_000006.1:g.32745_36301del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans approximately 3.5 kb on the α-globin gene cluster, removing the entire HBA2 gene. The 5' and 3' breakpoints are located at the Y2 and Y1 boxes, respectively, indicating that the deletion likely results from an unequal crossover event between these homologous Y-boxes. It extends from 965 bp upstream to 1728 bp downstream of the HBA2 gene. Detected in a compound heterozygous state with a phenotype of Hb H disease. Initially reported by Hamid et al [DOI https://doi.org/10.4081/thal.2015.467].
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: | α⁺ |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 3.557 kb |
| Deletion involves: | α2 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Chinese, Malaysian-Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Zhao Y, Lou J, Sun M, Fu Y, Ye W, Li Y, Dai Y, Liu Y, Hb H Disease Results from Compound Heterozygosity of - - and -α in a Chinese Family., Hemoglobin, 43(1), 69-72, 2019 PubMed
Created on 2019-07-29 13:16:15,
Last reviewed on 2019-07-29 13:18:05 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-07-29 13:16:15 | The IthaGenes Curation Team | Created |
| 2 | 2019-07-29 13:18:05 | The IthaGenes Curation Team | Reviewed. Reference added. |
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IthaGenes was last updated on 2024-11-20 13:24:07