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: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
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.
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
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
- 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
- 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
- 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
Created on 2010-06-16 16:13:15,
Last reviewed on 2024-03-06 09:27:45 (Show full history)
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