IthaID: 3409
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 26 GAG>AAG, IVS I-7 A>G | HGVS Name: | HBB:c.[79G>A;92+7A>G] |
| Hb Name: | Hb E-Udon Thani | Protein Info: | β 26(B8) Glu>Lys AND β nt 149 A>G |
Also known as:
Comments: Hb E-Udon Thani is a form of Hb E-β-thalassaemia syndrome caused by a double mutation on a β-globin gene. Found as a heterozygote in a healthy proband with a history of constant hypochromic microcytosis without anaemia, resulting in elevated Hb A2 (5.7%) and an unusually low level of Hb E (3.1%).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70673 or 70693 |
| Size: | 1 bp or 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Singha K, Fucharoen G, Fucharoen S, Molecular characterisation of haemoglobin E-Udon Thani (HBB:c.[79G>A;92+7A>G]): a novel form of Hb E-β-thalassaemia syndrome., J. Clin. Pathol., 72(4), 322-324, 2019
Created on 2019-04-17 17:07:56,
Last reviewed on 2022-07-12 11:58:02 (Show full history)
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