IthaID: 3409


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
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%).

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype: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

Publications / Origin

  1. 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 2019-04-17 17:10:23 (Show full history)

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