IthaID: 536


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 45 CAC>CGC [His>Arg] HGVS Name: HBA1:c.137A>G | HBA2:c.137A>G
Hb Name: Hb Fort de France Protein Info: α2 or α1 45(CE3) His>Arg

Context nucleotide sequence:
CCCACCACCAAGACCTACTTCCCGC [A/C/G] CTTCGACCTGAGCCACGGCTCTGCC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPRFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34029 or 37833
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: French West Indies
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

HPLC

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
226Hb Fort de Franceα1 or α2D-10Dual Kit Program64.11.66Heterozygote. Elutes in the window of HbA2.[PDF]
232Hb Fort de Franceα1 or α2D-10Dual Kit Program16.13.06Compound heterozygote. In this case HbA0 is a result of transfusion.[PDF]
227Hb Fort de Franceα1 or α2VARIANTβ-thal Short Program16.33.52Heterozygote. Elutes in the window of HbA2.[PDF]

Publications / Origin

  1. Braconnier F, Gacon G, Thillet J, Wajcman H, Soria J, Maigret P, Labie D, Rosa J, Hemoglobin Fort de France (alpha2(45)(CD3) His replaced by Arg beta2). A new variant with increased oxygen affinity., Biochim. Biophys. Acta , 493(1), 228-33, 1977
  2. Cash FE, Monplaisir N, Goossens M, Liebhaber SA, Locus assignment of two alpha-globin structural mutants from the Caribbean basin: alpha Fort de France (alpha 45 Arg) and alpha Spanish Town (alpha 27 Val)., Blood , 74(2), 833-5, 1989
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-27 12:39:25 (Show full history)

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