IthaID: 302
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α2.4 | HGVS Name: | NG_000006.1:g.36859_39252del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The 2.4 kb deletion removes the entire HBA1 and leaves the HBA2 intact. It was first found in compound heterozygosity with –SEA (IthaID: 309), leading to moderate Hb H disease, with Hb ranging from 7 to 9 g/dL.
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: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 36859 |
| Size: | 2.392 kb |
| Deletion involves: | α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | 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 JB, Zhao L, Fei YJ, Liu JC, Huisman TH, A novel alpha-thalassemia-2 (-2.7-kb) observed in a Chinese patient with Hb H disease., American journal of hematology, 38(3), 248-9, 1991 PubMed
- Eng B, Walsh R, Walker L, Patterson M, Waye JS, Characterization of a rare single alpha-globin gene deletion in a Chinese woman with Hb H disease., Hemoglobin, 29(4), 297-9, 2005 PubMed
- Lin M, Wu JR, Huang Y, Lin F, Zhan XF, Lin CP, Tong X, Luo ZY, Yang HT, Yang LY, Wang Q, Zheng L, Zhong TY, Clinical and molecular characterization of a rare 2.4 kb deletion causing α(+) thalassemia in a Chinese family., Blood Cells Mol Dis, 49(2), 83-4, 2012 PubMed
- So CC, Chan AY, Ma ES, Novel Point Mutation of the α2-Globin Gene (HBA2) and a Rare 2.4 kb Deletion of the α1-Globin Gene (HBA1), Identified in Two Chinese Patients with Hb H Disease., Hemoglobin , 38(3), 213-5, 2014 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2024-03-06 09:27:45 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2024-02-22 15:57:12 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. References added. |
| 4 | 2024-02-22 16:02:57 | The IthaGenes Curation Team | Reviewed. Comment added. |
| 5 | 2024-03-06 09:27:45 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-04-18 10:10:45