IthaID: 3753

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 3'UTR +71 G>C HGVS Name: HBA2:c.*71G>C
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Also known as:

Comments: Found in compound heterozygosity with the -α3.7 [IthaID: 300], in a 28-year-old Chinese female presented with no clinical presentation (Hb 11.5 g/dL, MCV 83.9 fL, MCH 26.9 pg). Capillary electrophoresis shown normal Hb A 97.3 % and Hb A2 2.7 % levels.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34534
Size: 1 bp
Located at: α2
Specific Location: 3'UTR

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Other 3'UTR site (mRNA Processing)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!


1Li, Youqiong2021-03-09First report.
Created on 2021-03-10 20:36:39, Last reviewed on 2021-03-10 20:37:19 (Show full history)

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