IthaID: 409

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
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:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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]


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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Spanish, Portuguese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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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. Garçon L, Iolascon A, Pissard S, Esposito MR, Russo R, Fenneteau O, Fénéant-Thibault M, Heimpel H, Delaunay J, A dyserythropoietic anemia associated with homozygous Hb Plasencia [α125(H8)Leu→Arg (α2)] (HBA2:c.377T>G), a variant with an unstable α chain., Hemoglobin, 34(6), 576-81, 2010 PubMed
  3. 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 2021-10-07 12:53:10 (Show full history)

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