IthaID: 479

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 20 CAC>CAA [His>Gln] HGVS Name: HBA2:c.63C>A
Hb Name: Hb Le Lamentin Protein Info: α2 20(B1) His>Gln

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33838
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: English, French West Indies, Japanese, Spanish
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
365Hb Le Lamentinα2D-10Dual Kit Program28.81.38heterozygote[PDF]
297Hb Le Lamentinα2D-10Dual Kit Program24.81.36heterozygote[PDF]
366Hb Le Lamentinα2VARIANTβ-thal Short Program331.49heterozygote[PDF]
298Hb Le Lamentinα2VARIANTβ-thal Short Program25.41.51heterozygote[PDF]
368Hb Le Lamentinα2VARIANT IIDual Kit Program29.11.47heterozygote[PDF]
367Hb Le Lamentinα2VARIANT IIβ-thal Short Program5.61.66heterozygote[PDF]
300Hb Le Lamentinα2VARIANT IIDual Kit Program25.51.41heterozygote[PDF]
299Hb Le Lamentinα2VARIANT IIβ-thal Short Program25.61.49heterozygote[PDF]

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Sellaye M, Blouquit Y, Galacteros F, Arous N, Monplaisir N, Rhoda MD, Braconnier F, Rosa J, A new silent hemoglobin variant in a black family from French West Indies, hemoglobin Le Lamentin alpha 20 His replaced by Gln., FEBS Lett. , 145(1), 128-30, 1982 PubMed
  2. Harano T, Harano K, Shibata S, Ueda S, Imai K, Tsuneshige A, Uchida E, Horiuchi K, Hb Le Lamentin [alpha 20 (B 1) His----Gln] in Japan: structure, function and biosynthesis., Hemoglobin , 7(2), 181-4, 1983 PubMed
  3. Malcorra-Azpiazu JJ, Balda-Aguirre MI, Diaz-Chico JC, Kutlar F, Kutlar A, Wilson JB, Hu H, Huisman TH, Hb Le Lamentin or alpha 2 20(B1)His----GLN beta 2 found in a Spanish family., Hemoglobin , 12(2), 201-5, 1988 PubMed
  4. Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994 PubMed
  5. Reynolds TM, McMillan F, Smith A, Hutchinson A, Green B, Haemoglobin Le Lamentin (alpha 20 (B1) His-->Gln) in a British family: identification by electrospray mass spectrometry., J. Clin. Pathol. , 51(6), 467-70, 1998 PubMed
  6. Wiener K, McFarlane X, Green BN, Increasing recognition of haemoglobin Le Lamentin., J. Clin. Pathol. , 54(12), 970, 2001 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-13 09:14:15 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.