IthaID: 1040

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 73 GAT>AAT HGVS Name: HBB:c.220G>A
Hb Name: Hb G-Accra Protein Info: β 73(E17) Asp>Asn

Context nucleotide sequence:

Protein sequence:

Also known as: Hb Korle-Bu

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70944
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No


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
384Hb G-AccraβD-10Dual Kit Program40.63.53Normal in the heterozygote.[PDF]
385Hb G-AccraβVARIANTβ-thal Short Program43.93.88Normal in the heterozygote. [PDF]
386Hb G-AccraβVARIANT IIβ-thal Short Program43.53.89Normal in the heterozygote. [PDF]
387Hb G-AccraβVARIANT IIDual Kit Program43.13.144Normal in the heterozygote.[PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Konotey-Ahulu FI, Gallo E, Lehmann H, Ringelhann B, Haemoglobin Korle-Bu (beta 73 aspartic acid replaced by asparagine) showing one of the two amino acid substitutions of haemoglobin C Harlem., Journal of medical genetics, 5(2), 107-11, 1968 PubMed
  2. Nagel RL, Lin MJ, Witkowska HE, Fabry ME, Bestak M, Hirsch RE, Compound heterozygosity for hemoglobin C and Korle-Bu: moderate microcytic hemolytic anemia and acceleration of crystal formation [corrected]., Blood , 82(6), 1907-12, 1993 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2017-04-18 11:41:37 (Show full history)

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