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
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
- 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
- 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
- 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
Created on 2021-08-25 11:12:37,
Last reviewed on 2022-07-12 11:28:51 (Show full history)
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