IthaID: 657

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 89 CAC>CTC [His>Leu] HGVS Name: HBA1:c.269A>T | HBA2:c.269A>T
Hb Name: Hb Luton Protein Info: α2 or α1 89(FG1) His>Leu

Context nucleotide sequence:

Protein sequence:

Also known as:


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34161 or 37965
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2


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

Other details

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

Sequence Viewer

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Publications / Origin

  1. Williamson D, Langdown JV, Myles T, Mason C, Henthorn JS, Davies SC, Polycythaemia and microcytosis arising from the combination of a new high oxygen affinity haemoglobin (Hb luton, alpha 89 His-->Leu) and alpha thalassaemia trait., Br. J. Haematol. , 82(3), 621-2, 1992 PubMed
  2. El-Sharkawi D, Fisher C, Khambadkone S, Stephens AD, Porter JB, Secondary erythrocytosis due to compound homozygosity, but not compound heterozygosity, for Hb Luton and α-thalassemia: a family study., Hemoglobin , 36(1), 7-17, 2012 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 10:20:37 (Show full history)

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