IthaID: 3955


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Siriraj I Gγ(Aγδβ)0 HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as: ~118 kb del

Comments: First reported in two unrelated clinically asymptomatic heterozygous carriers from the southern part of Thailand. More recently, reported in a Malay boy in compound heterozygosity with IVS1-1 (G>T), presented with thalassaemia intermedia.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δβ-thalassaemia
Allele Phenotype:Gγ(Aγδβ)0
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 118 kb
Deletion involves: , δ, β

Other details

Type of Mutation: Deletion
Ethnic Origin: Thai, Malay
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Van Gorkom HJ, Pulles MP, Haveman J, Den Haan GA, Primary reactions of photosystem II at low pH. I. Prompt and delayed fluorescence., Biochim Biophys Acta, 423(2), 217-26, 1976
  2. Wong YY, Alauddin H, Raja Sabudin RZA, Ithnin A, Jalil N, Abdul Latiff Z, Loh CK, Alias H, Othman A, Siriraj I γ(γδβ)-thalassaemia causing severe thalassaemia intermedia in compound heterozygous state with IVS1-1(G→T) mutation., Malays J Pathol, 43(1), 95-100, 2021
Created on 2022-08-08 13:45:24, Last reviewed on (Show full history)

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