IthaID: 538

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 45 CAC>CAG [His>Gln] HGVS Name: HBA2:c.138C>G
Hb Name: Hb Bari Protein Info: α2 45(CE3) His>Gln

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Initially detected in a young male of southern Italian origin (Calabria) as an electrophoretically silent hemoglobin (Hb) variant using citrate agar electrophoresis and DEAE-cellulose column chromatography. Separation of the abnormal α chains was achieved by CM-cellulose column chromatography. Identified as a His to Gln substitution at position 45 in the α-chain of Hb Bari, affecting a distal heme contact, by peptide mapping and amino acid analysis [PMID: 7378457]. Identified by sequencing analysis as a c.138C>G change in the HbA2 gene in an otherwise clinically healthy individual from north-eastern Spain (Zaragoza) [PMID: 38075166].

We follow the HGVS sequence variant nomenclature and IUPAC standards.


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34030
Size: 1 bp
Located at: α2
Specific Location: N/A

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Marinucci M, Mavilio F, Tentori L, D'Erasmo F, Colapietro A, de Stasio G, Di Fonzo S, A new human hemoglobin variant: Hb BARI (alpha 2 45 (CD3) His leads to Gln beta 2)., Biochim. Biophys. Acta , 622(2), 315-9, 1980 PubMed
  2. Lahoz Alonso R, Romero Sánchez N, González Sánchez R, Escobar Medina A, López Martos AM, Domínguez García M, Beneitez Pastor D, Prieto Grueso M, Blanco Álvarez A, Urban Giralt S, Esteve Alcalde P, Incidental finding of rare hemoglobin: hemoglobin Bari in northeast Spain., Adv Lab Med, 4(3), 321-325, 2023 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2023-12-19 11:44:53 (Show full history)

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