IthaID: 3991

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 10 GTC>GAC [Val>Asp] HGVS Name: HBA2:c.32T>A
Hb Name: Hb Chumphae Protein Info: N/A

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: The mutation was detected in a 2-week-old Thai boy during investigating the cause of anemia. DNA analysis showed the interaction of α0-thalassemia (SEA deletion) and Hb Chumphae. CBC revealed RBC 3.19x10^12/L, Hb 7.7 g/dL, Hct 7.7 %, MCV 76.8 fL, MCH 24.0 pg, MCHC 31.2 g/dL, RDW 28.0%. Hb analysis showed 39.6% Hb A, 29.5% Hb F, 29.4% Hb Bart’s, and 1.5% Hb H.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33807
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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


1Singha, Kritsada 2022-12-12First report.
2Fucharoen, Supan2022-12-12First report.
Created on 2022-12-13 14:23:59, Last reviewed on 2022-12-14 15:38:22 (Show full history)

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