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.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:N/A
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

Sequence Viewer

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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 2021-08-25 11:18:38 (Show full history)

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