IthaID: 2460

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Init CD ATG>AGG [Met>Arg] HGVS Name: HBA2:c.2T>G
Hb Name: N/A Protein Info: α2 Initiation codon Met>Arg

Also known as:

External Links


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


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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Initiation codon (Translation), Missense codons (Protein Structure)
Ethnic Origin: Iranian
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Zandian K, Nateghi J, Keikhaie B, Pedram M, Hafezi-Nejad N, Hadavi V, Oberkanins C, Azarkeivan A, Law HY, Najmabadi H, alpha-thalassemia mutations in Khuzestan Province, Southwest Iran., Hemoglobin , 32(6), 546-52, 2008
  2. Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016
Created on 2014-06-03 12:59:24, Last reviewed on 2016-09-01 11:29:47 (Show full history)

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