IthaID: 673

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 94 GAC>TAC [Asp>Tyr] HGVS Name: HBA2:c.283G>T
Hb Name: Hb Setif Protein Info: α2 94(G1) Asp>Tyr

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: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34175
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Algerian, Iranian, Lebanese, Saudi Arabian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes


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
608Hb Setifα2D-10Dual Kit Program11.34.4Heterozygote. [PDF]
603Hb Setifα2D-10Dual Kit Program3.51.43Heterozygote. Elutes with HbA. [PDF]
609Hb Setifα2VARIANTβ-thal Short Program14.54.66Heterozygote. [PDF]
604Hb Setifα2VARIANTβ-thal Short Program3.51.6Heterozygote. Elutes with HbA. [PDF]
611Hb Setifα2VARIANT IIDual Kit Program10.43.908Heterozygote. [PDF]
610Hb Setifα2VARIANT IIβ-thal Short Program13.24.74Heterozygote. [PDF]
605Hb Setifα2VARIANT IIDual Kit Program61.529Heterozygote. Elutes with HbA. [PDF]

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Wajcman H, Belkhodja O, Labie D, Hb Setif: G1 (94) Asp-Tyr. A new chain hemoglobin variant with substitution of the residue involved in hydrogen bond between unlike subunits., FEBS Lett. , 27(2), 298-300, 1972 PubMed
  2. Aubert JP, Drupt F, Rousseaux J, Loucheux-Lefebvre MH, Comparison between human normal and Sétif haemoglobins by circular dichroism and differential absorption studies., FEBS Lett. , 84(2), 375-8, 1977 PubMed
  3. Nozari G, Rahbar S, Darbre P, Lehmann H, Hemoglobin Setif (alpha94 (G1) Asp replaced by Tyr) in Iram. A report of 9 cases., Hemoglobin , 1(3), 289-92, 1977 PubMed
  4. Raik E, Powell E, Fleming P, Gordon S, Hemoglobin Setif and in vitro pseudosickling noted in a family with co-existent alpha and beta thalassemia., Pathology , 15(4), 453-6, 1983 PubMed
  5. Al-Awamy B, Niazi GA, Wilson JB, Huisman TH, Hb Setif or alpha 2 94(G1)Asp----Tyr beta 2 observed in a Saudi Arabian family., Hemoglobin , 9(1), 87-90, 1985 PubMed
  6. Charache S, Raik E, Holtzclaw D, Hathaway PJ, Powell E, Fleming P, Pseudosickling of hemoglobin Setif., Blood , 70(1), 237-42, 1987 PubMed
  7. Douna V, Papassotiriou I, Stamoulakatou A, Metaxotou-Mavrommati A, Kanavakis E, Traeger-Synodinos J, Association of mild and severely unstable alpha chain variants: the first observation of a compound heterozygote with Hb Setif [alpha94(G1)Asp-->Tyr (alpha2)] and Hb Agrinio [alpha29(B10)Leu-->Pro (alpha2)] in a Greek family., Hemoglobin , 32(6), 592-5, 2008 PubMed
  8. Farashi S, Garous NF, Vakili S, Ashki M, Imanian H, Azarkeivan A, Najmabadi H, Characterization of Homozygous Hb Setif (HBA2: c.283G>T) in the Iranian Population., Hemoglobin , 40(1), 53-5, 2016 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2021-03-11 14:56:28 (Show full history)

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