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 |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GTCTCCTGCCGACAAGACCAACG [T>A] CAAGGCCGCCTGGGGTAAGGTCGG (Strand: +)
Protein sequence:
MVLSPADKTNDKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVHDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | N/A |
Location
| 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
Publications / Origin
- Singha K, Tepakhan W, Yamsri S, Chaibunruang A, Srivorakun H, Pansuwan A, Fucharoen G, Fucharoen S, A large cohort of Hb H disease in northeast Thailand: A molecular revisited, diverse genetic interactions and identification of a novel mutation., Clin Chim Acta, 561(0), 119830, 2024
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Singha, Kritsada | 2022-12-12 | First report. |
| 2 | Fucharoen, Supan | 2022-12-12 | First report. |