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


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

To the best of our knowledge, this is unpublished data.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


1Fucharoen, Supan2022-12-27First report.
2Hanart, Chulikon2022-12-27First report.
3Srivorakun, Hataichanok2022-12-27First report.
Created on 2023-01-02 10:17:08, Last reviewed on 2023-01-02 10:25:53 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.