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.

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

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
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)

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