IthaID: 1089

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 87 ACA>ATA HGVS Name: HBB:c.263C>T
Hb Name: Hb Quebec-Chori Protein Info: β 87(F3) Thr>Ile

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Hb Quebec-Chori is mainly found in individuals diagnosed with sickle cell trait, but with multiple complications consistent with sickle cell disease. It is an electrophoretically silent Hb variant with normal oxygen tension (P50). The β Quebec-Chori globin chain can be detected on reversed-phase chromatography, Triton-urea gel electrophoresis and ESI MS. The genetic variant is located at the site of the β-globin chain involved in lateral contacts between sickle fibers. The hydrophobic βVal6 residue interacts with the hydrophobic pocket formed by βPhe85 and βLeu88 on a neighboring Hb tetramer, favoring deoxy-HbS polymerization. It is speculated that the β87 Thr>Ile change (Ile=hydrophobic residue) at the lateral contact site supports the formation of the HbS polymer.


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70987
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Canadian | English | French | Ghanaian | Irish
Molecular mechanism: Altered interaction with HbS polymer
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Witkowska HE, Lubin BH, Beuzard Y, Baruchel S, Esseltine DW, Vichinsky EP, Kleman KM, Bardakdjian-Michau J, Pinkoski L, Cahn S, Sickle cell disease in a patient with sickle cell trait and compound heterozygosity for hemoglobin S and hemoglobin Quebec-Chori., The New England journal of medicine, 325(16), 1150-4, 1991 PubMed
  2. Segal L, Discepola M, Idiopathic intracranial hypertension and sickle cell disease: two case reports., Can J Ophthalmol, 40(6), 764-7, 2005 PubMed
  3. Tubman VN, Bennett CM, Luo HY, Chui DH, Heeney MM, Sickle cell disease caused by Hb S/Québec-CHORI: treatment with hydroxyurea and response., Pediatr Blood Cancer, 49(2), 207-10, 2007 PubMed
  4. Goode E, Boruchov D, Oliveira JL, Lau CC, Hemoglobin S/Hemoglobin Quebec-Chori Presenting as Sickle Cell Disease: A Case Report., J Pediatr Hematol Oncol, 42(8), e775-e777, 2020 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2021-04-02 12:50:45 (Show full history)

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