IthaID: 1021

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 67 GTG>ATG [Val>Met] HGVS Name: HBB:c.202G>A
Hb Name: Hb Alesha Protein Info: β 67(E11) Val>Met

Context nucleotide sequence:

Protein sequence:

Also known as: Hb Bristol-Alesha, Hb Bristol

Comments: Valine changes to a methionine residue at position β67(E11). This Hb variant is the same as Hb Bristol, initially characterized by protein analysis as a β67(E11)Val>Asp substitution. The Met molecule is first generated at 67[E11] and then posttranslationally converted to the Asp molecule. The Met>Asp conversion is directly related to accelerated autoxidation, H2O2 being the causative agent. The results of Hb electrophoresis, IEF, HPLC and reversed phase HPLC vary, and in some cases the anomalous Hb cannot be detected by these methods. Hb Bristol and Hb Alesha are considered the same, and the condition is now termed Hb Bristol-Alesha. Overall, the introduction of the larger methionine residue into the heme pocket and the loss of the bonds between valine at β67 and the heme group, produce an unstable Hb and severe hemolysis.

We follow the HGVS sequence variant nomenclature and IUPAC standards.


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:Thalassaemia dominant
Stability: Unstable
Oxygen Affinity: Decreased Oxygen Affinity
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70926
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: Russian, mixed Indian European, Japanese, English, Argentinian, German
Molecular mechanism: Altered heme pocket
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Molchanova TP, Postnikov YuV , Pobedimskaya DD, Smetanina NS, Moschan AA, Kazanetz EG, Tokarev YuN , Huisman TH, Hb Alesha or alpha 2 beta (2)67(E11)Val-->Met: a new unstable hemoglobin variant identified through sequencing of amplified DNA., Hemoglobin, 17(3), 217-25, 1993 PubMed
  2. Rees DC, Rochette J, Schofield C, Green B, Morris M, Parker NE, Sasaki H, Tanaka A, Ohba Y, Clegg JB, A novel silent posttranslational mechanism converts methionine to aspartate in hemoglobin Bristol (beta 67[E11] Val-Met->Asp)., Blood, 88(1), 341-8, 1996 PubMed
  3. Kano G, Morimoto A, Hibi S, Tokuda C, Todo S, Sugimoto T, Harano T, Miyazaki A, Shimizu A, Imashuku S, Hb Bristol-Alesha presenting thalassemia-type hyperunstable hemoglobinopathy., International journal of hematology, 80(5), 410-5, 2004 PubMed
  4. Eberle SE, Noguera NI, Sciuccati G, Bonduel M, Díaz L, Staciuk R, Targovnik HM, Feliu-Torres A, Hb Alesha [beta67(E11)Val-->Met, GTG-->ATG] in an Argentinean girl., Hemoglobin, 31(3), 379-82, 2007 PubMed
  5. Pedroso GA, Kimura EM, Santos MNN, Albuquerque DM, Ferruzzi JLH, Jorge SE, Costa FF, Saad STO, Sonati MF, Coinheritance of Hb Bristol-Alesha [β67(E11)Val→Met; HBB: c.202G>A] and the α212 Patchwork Allele in a Brazilian Child with Severe Congenital Hemolytic Anemia., Hemoglobin , 41(3), 203-208, 2017 PubMed
  6. Hamid M, Zargan Nezhad E, Galehdari H, Saberi A, Shariati G, Sedaghat A, A First Report of Hb Alesha [β67(E11)Val>Met, GTG>ATG] in an Iranian Patient., Iran Biomed J, 23(6), 429-31, 2019 PubMed
  7. Zhang Q, Shi HC, Liu N, [Hb Alesha of unstable hemoglobinopathy: a case report and literature review]., Zhonghua Xue Ye Xue Za Zhi, 42(2), 158-160, 2021 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2023-04-28 11:49:02 (Show full history)

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