IthaID: 1008

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 63 CAT>AAT [His>Asn] HGVS Name: HBB:c.190C>A
Hb Name: Hb Haná Protein Info: β 63(E7) His>Asn

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: The mutation replaces a hydrophobic amino acid (His) for a hydrophilic amino acid (Asn), likely affecting the hydrophobic properties of the heme microenvironment. Initially reported in a heterozygous state in a Czech proband and her sister with Heinz body hemolytic anemia and elevated levels of methaemoglobin. The mother with the same mutation, who is also a smoker, is asymptomatic and had no anemia nor signs of hemolysis. Also found in a heterozygous state in a Senegalese proband and her mother, both presenting with chronic asthenia associated with intermittent headaches, moderate anemia and elevated levels of methaemoglobin. Due to the proband's dark skin, cyanosis was not clinically detectable.

We follow the HGVS sequence variant nomenclature and IUPAC standards.


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:Methemoglobinaemia
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70914
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: Czech, Senegalese
Molecular mechanism: Altered heme pocket
Inheritance: Dominant
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Divoký V, Luhový M, Divoká M, Melichárková R, Pospísilová , Indrák K, [Hemoglobin Haná or alpha 2 beta 2 63 (E7) His-Asn: a new unstable hemoglobin variant with a paradoxically different clinical manifestations in smokers and non-smokers in the same family], Vnitr̆ní lékar̆ství, 43(5), 267-72, 1997 PubMed
  2. Mojzikova R, Dolezel P, Pavlicek J, Mlejnek P, Pospisilova D, Divoky V, Partial glutathione reductase deficiency as a cause of diverse clinical manifestations in a family with unstable hemoglobin (Hemoglobin Haná, β63(E7) His-Asn)., Blood Cells Mol Dis, 45(3), 219-22, 2010 PubMed
  3. Le Calvez B, Delecourt-Billet M, Grain A, Couque N, Leblanc T, Congenital methaemoglobinaemia and chronic haemolysis related to a rare form of unstable haemoglobin: Efficacy of riboflavin on clinical and biological features., Br J Haematol, 2022 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2023-03-07 13:00:51 (Show full history)

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