IthaID: 3955
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Siriraj I Gγ(Aγδβ)0 | HGVS Name: | N/A |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: ~118 kb del
Comments: First reported in two unrelated clinically asymptomatic heterozygous carriers from the southern part of Thailand. More recently, reported in a Malay boy in compound heterozygosity with IVS1-1 (G>T), presented with thalassaemia intermedia.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | Gγ(Aγδβ)0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | N/A |
| Size: | 118 kb |
| Deletion involves: | Aγ, δ, β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Thai, Malay |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Van Gorkom HJ, Pulles MP, Haveman J, Den Haan GA, Primary reactions of photosystem II at low pH. I. Prompt and delayed fluorescence., Biochim Biophys Acta, 423(2), 217-26, 1976
- Wong YY, Alauddin H, Raja Sabudin RZA, Ithnin A, Jalil N, Abdul Latiff Z, Loh CK, Alias H, Othman A, Siriraj I γ(γδβ)-thalassaemia causing severe thalassaemia intermedia in compound heterozygous state with IVS1-1(G→T) mutation., Malays J Pathol, 43(1), 95-100, 2021
Created on 2022-08-08 13:45:24,
Last reviewed on (Show full history)
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