IthaID: 409

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 125 CTG>CGG [Leu>Arg] HGVS Name: HBA2:c.377T>G
Hb Name: Hb Plasencia Protein Info: α2 125(H8) Leu>Arg

Context nucleotide sequence:

Protein sequence:


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34411
Size: 1 bp
Located at: α2
Specific Location: Exon 3


Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α⁺
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Substitution)
Ethnic Origin: Spanish, Portuguese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer


Publications / Origin

  1. Martin G, Villegas A, González FA, Ropero P, Hojas R, Polo M, Mateo M, Salvador M, Benavente C, A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu--Arg (alpha2)., Hemoglobin, 29(2), 113-7, 2005 PubMed
  2. Cunha E, Bento C, Oliveira A, Relvas L, Neves J, Gameiro M, Barros C, Araújo A, Macedo A, Rocha P, Costa R, Maia T, Ribeiro ML, Hb Plasencia [α125(H8)Leu→Arg (α2)] is a frequent cause of α+-thalassemia in the Portuguese population., Hemoglobin , 37(2), 183-7, 2013 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2016-12-20 11:06:29 (Show full history)


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