IthaID: 3852

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 93 GTG>ATG [Val>Met] HGVS Name: HBA1:c.280G>A
Hb Name: Hb Qingcheng Protein Info: α1 93(FG5) Val>Met

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in a 31-year-old female on a pre-marriage thalassemia screening program. Next-generation sequencing (long-range PCR and deep sequencing) revealed that the proband carried a mosaic variant with a level of 18.46%. Hb Qingcheng was not detected by HPLC and CE analysis assuming an unstable variant leading to α+-thal phenotype in the mosaic individual.

External Links

No available links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:α⁺
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37976
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Wang RY, Jiang F, Xu LL, Li DZ, Mild α-Thalassemia Caused by a Mosaic α-Globin Gene Mutation., Hemoglobin, 45(2), 140-141, 2021
Created on 2021-09-17 14:18:20, Last reviewed on (Show full history)

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