IthaID: 3848
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α4.2-Q-Thailand | HGVS Name: | N/A |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The Hb Q-Thailand variant is strongly linked in cis to a leftward single α -globin gene deletion (–α4.2). The α4.2kb deletion consists of an only one functional α-globin gene (HBA1) in which Hb Q-Thailand mutation occurs. Individuals heterozygous for Hb Q-Thailand are usually clinically asymptomatic and have normal or slight RBC microcytosis because of the linked –α4.2 α+-thal allele.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
| Allele Phenotype: | α⁺ |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37919 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | N/A |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Chinese, Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence 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
- Chen SS, Yang KK, Jia PC, Liang CC, Zhang MJ, Huang MX, Zhang GL, Wen PC, Du SK, A case of -(4.2)alpha T/-(4.2) alpha Q in combination with a beta zero-thalassemia homozygosity found in a family of the Zhuang nationality in china., Hemoglobin , 16(5), 409-15, 1992 PubMed
- Zeng FY, Fucharoen S, Huang SZ, Rodgers GP, Hb Q-Thailand [alpha 74(EF3)Asp-->His]: gene organization, molecular structure, and DNA diagnosis., Hemoglobin, 16(6), 481-91, 1992 PubMed
- Liao C, Li J, Li D, Association of beta-thalassemia and Hb Q-Thailand resulting in a normal Hb A2 value., Hemoglobin, 32(5), 505-8, 2008 PubMed
- He S, Qin Q, Lin L, Chen Q, Yi S, Wei H, Du J, Zheng C, Qiu X, Chen B, Complex Interaction of Hb Q-Thailand with α- and β-Thalassemia in a Chinese Family., Hemoglobin, 41(1), 68-72, 2017 PubMed
Created on 2021-08-25 11:12:37,
Last reviewed on 2022-07-12 11:28:51 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2021-08-25 11:12:37 | The IthaGenes Curation Team | Created |
| 2 | 2021-08-25 11:18:38 | The IthaGenes Curation Team | Reviewed. Comment added. |
| 3 | 2022-07-12 11:28:51 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
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IthaGenes was last updated on 2024-11-20 13:24:07