IthaID: 406



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 119 CCT>TCT [Pro>Ser] HGVS Name: HBA1:c.358C>T
Hb Name: Hb Groene Hart Protein Info: α1 119(H2) Pro>Ser

Context nucleotide sequence:
CGCCCACCTCCCCGCCGAGTTCACC [C/T] CTGCGGTGCACGCCTCCCTGGACAA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTSAVHASLDKFLASVSTVLTSKYR

Also known as: Hb Bemalda P, Hb Bernalda

Comments: Proline in position α117 (H2) is an α helix initiator, involved in the secondary conformation of the α-globin chain. Pro>Ser replacement disturbs the α1β1 contact, which increases the concentration of unstable free globin chains. The mutation also impairs interaction with the α-haemoglobin stabilizing protein (AHSP), which leads to α chain pool reduction and α-thalassaemia phenotype ([PMID: 17052927] for in vitro assay). First reported in heterozygotes of a Moroccan family with a mild α-thalassaemia phenotype. Reported in a number of heterozygotes, homozygotes and compound heterozygotes with the -α3.7 deletion from Morocco, Algeria and Tunisia. Unstable variant characterized by DNA sequencing (several methods failed to detect an abnormal native or denatured haemoglobin). Microcytic hypochromic parameters reported in all cases.

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 38203
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α⁺
Thalassaemia
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Moroccan, Algerian, Tunisian
Inheritance: Recessive
DNA Sequence Determined: Yes
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
207Hb Groene Hartα1D-10Dual Kit Program79.61.68Mild non-deletional alpha thal variant. Migrates as HbA. [PDF]
210Hb Groene Hartα1VARIANT IIDual Kit Program801.772Mild non-deletional alpha thal variant. Migrates as HbA. [PDF]
208Hb Groene Hartα1VARIANTβ-thal Short Program81.92.46Mild non-deletional alpha thal variant. Migrates as HbA. [PDF]
209Hb Groene Hartα1VARIANT IIβ-thal Short Program82.42.5Mild non-deletional alpha thal variant. Migrates as HbA. [PDF]

Sequence Viewer

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Frequencies

Publications / Origin

  1. Harteveld CL, van Delft P, Plug R, Versteegh FG, Hagen B, van Rooijen I, Kok PJ, Wajcman H, Kister J, Giordano PC, Hb Groene Hart: a new Pro-->Ser amino acid substitution at position 119 of the alpha1-globin chain is associated with a mild alpha-thalassemia phenotype., Hemoglobin, 26(3), 255-60, 2002 PubMed
  2. Siala H, Ouali F, Messaoud T, Sfar R, Fattoum S, First description in Tunisia of a point mutation at codon 119 (CCT-->TCT) in the alpha1-globin gene: Hb Groene Hart in association with the -alpha3.7 deletion., Hemoglobin, 29(4), 263-8, 2005 PubMed
  3. Vasseur-Godbillon C, Marden MC, Giordano P, Wajcman H, Baudin-Creuza V, Impaired binding of AHSP to alpha chain variants: Hb Groene Hart illustrates a mechanism leading to unstable hemoglobins with alpha thalassemic like syndrome., Blood Cells Mol. Dis., 37(3), 173-9, 2006 PubMed
  4. Giordano PC, Zweegman S, Akkermans N, Arkesteijn SG, van Delft P, Versteegh FG, Wajcman H, Harteveld CL, The first case of Hb Groene Hart [alpha119(H2)Pro-->Ser, CCT-->TCT (alpha1)] homozygosity confirms that a thalassemia phenotype is associated with this abnormal hemoglobin variant., Hemoglobin, 31(2), 179-82, 2007 PubMed
  5. Thom CS, Dickson CF, Gell DA, Weiss MJ, Hemoglobin variants: biochemical properties and clinical correlates., Cold Spring Harb Perspect Med, 3(3), a011858, 2013 PubMed
  6. Joly P, Lacan P, Garcia C, Francina A, Description of the phenotypes of 63 heterozygous, homozygous and compound heterozygous patients carrying the Hb Groene Hart [α119(H2)Pro→Ser; HBA1: c.358C>T] variant., Hemoglobin, 38(1), 64-6, 2014 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2019-06-21 12:39:57 (Show full history)

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