IthaID: 343

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: Init CD ATG>A-G HGVS Name: HBA2:c.2delT
Hb Name: N/A Protein Info: α2 Initiation codon Met->0

Context nucleotide sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33777
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Initiation codon (Translation)
Ethnic Origin: Vietnamese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Waye JS, Eng B, Patterson M, Chui DH, Nisbet-Brown E, Olivieri NF, Novel mutation of the alpha 2-globin gene initiation codon (ATG-->A-G) in a Vietnamese girl with Hb H disease., Hemoglobin, 21(5), 469-72, 1997 PubMed
  2. Viprakasit V, Chinchang W, Glomglao W, Tanphaichitr VS, A rare association of alphaO-thalassemia (--SEA) and an initiation codon mutation (ATG-->A-G) of the alpha2 gene causes Hb H disease in Thailand., Hemoglobin , 29(3), 235-40, 2005 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-05-19 09:25:58 (Show full history)

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