IthaID: 3992
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 82 AAG>AAT [Lys>Asn]; CD133 GTG>ATG [Val>Met] | HGVS Name: | HBD:c.[249G>T;400G>A] |
| Hb Name: | Hb A2-Roi-Et | Protein Info: | N/A |
Also known as:
Comments: Hb A2-Roi-Et is caused by double mutations in cis on a δ-globin globin gene i.e., CD 82 AAG>AAT [Lys>Asn] in exon 2 and CD133 GTG>ATG [Val>Met] in exon 3. Interaction of Hb A2-Roi-Et and δβ0-thalassemia was observed in a 34-years-old Thai woman during prenatal screening for severe thalassemia diseases. CBC revealed RBC 4.6x1012/L, Hb 11.2 g/dL, Hct 34.6%, MCV 75.2 fL, MCH 24.4 pg, MCHC 32.4 g/dL, RDW 18.9%. Hb analysis showed 81.8% Hb A, 18.1% Hb F and 0.1% Hb A2′ without Hb A2 fraction. Her father was heterozygous for Hb A2-Roi-Et and her mother was a patient with compound heterozygous for δβ0-thalassemia and Hb E.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | δ-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: | 63559 or 64608 |
| Size: | 1 bp or 1 bp |
| Located at: | δ |
| Specific Location: | Exon |
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: | No |
In silico pathogenicity prediction
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Fucharoen, Supan | 2022-12-27 | First report. |
| 2 | Hanart, Chulikon | 2022-12-27 | First report. |
| 3 | Srivorakun, Hataichanok | 2022-12-27 | First report. |