IthaID: 1099

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 90 GAG>GAC [Glu>Asp] HGVS Name: HBB:c.273G>C
Hb Name: Hb Pierre-Bénite Protein Info: β 90(F6) Glu>Asp

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Hb Pierre-Benite [β90(F6)Glu>Asp] is associated with polycythaemia (erythrocytosis). The amino acid change does not alter the net charge or polarity of the Hb molecule, hence it is not readily detectable by conventional electrophoretic methods. The abnormal β chain can be detected by mass spectrometry (ESI MS). No Hb instability is found by isopropanol testing. This variant was initially detected in a French family by protein analysis and confirmed at a heterozygous state by direct sequencing in a subsequent study. The Glu>Asp substitution is accompanied by a 14 Da decrease in β chain mass. The β90(F6) residue (i.e., the sixth residue of the F helix) is external and is not involved in α1β1 contacts or in the heme pocket. It is, however, located near the heme-linked proximal His at β92 (F8). The Glu>Asp substitution is association with high oxygen affinity and normal heme-heme interaction.

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70997
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: French, Caucasian
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: Yes


Disclaimer: The HPLC images are provided as an information resource only. Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes. D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission. Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc. To access HPLC images and reports for different variants, use the IthaChrom tool.
ID Hb Variant Gene Instrument Method Area (%) Ret Time (min) Comments
70Hb Pierre-BéniteβD-10Dual Kit Program83.31.66This variant displays a high oxygen affinity and leads to erythrocytosis. Elutes as HbA0. [PDF]
71Hb Pierre-BéniteβVARIANTβ-thal Short Program84.82.33This variant displays a high oxygen affinity and leads to erythrocytosis. Elutes as HbA0. [PDF]
72Hb Pierre-BéniteβVARIANT IIDual Kit Program83.21.753This variant displays a high oxygen affinity and leads to erythrocytosis. Elutes as HbA0. [PDF]

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Baklouti F, Giraud Y, Francina A, Richard G, Favre-Gilly J, Delaunay J, Hemoglobin Pierre-Bénite [beta 90(F6)Glu----Asp], a new high affinity variant found in a French family., Hemoglobin, 12(2), 171-7, 1988 PubMed
  2. Beard ME, Potter HC, Spearing RL, Brennan SO, Haemoglobin Pierre-Benite--a high affinity variant associated with relative polycythaemia., Clin Lab Haematol, 23(6), 407-9, 2001 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2023-06-12 10:20:42 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.