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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. 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
  2. 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
  3. 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
  4. 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)

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