IthaID: 377

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 59 GGC>GAC [Gly>Asp] HGVS Name: HBA2:c.179G>A
Hb Name: Hb Adana Protein Info: α2 59(E8) Gly>Asp

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α+/α0
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34071
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: Southeast Asian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

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. Chan V, Chan VW, Tang M, Lau K, Todd D, Chan TK, Molecular defects in Hb H hydrops fetalis., British journal of haematology, 96(2), 224-8, 1997 PubMed
  2. Douna V, Papassotiriou I, Garoufi A, Georgouli E, Ladis V, Stamoulakatou A, Metaxotou-Mavrommati A, Kanavakis E, Traeger-Synodinos J, A rare thalassemic syndrome caused by interaction of Hb Adana [alpha59(E8)Gly-->Asp] with an alpha+-thalassemia deletion: clinical aspects in two cases., Hemoglobin, 32(4), 361-9, 2008 PubMed
  3. Nainggolan IM, Harahap A, Ambarwati DD, Liliani RV, Megawati D, Swastika M, Setianingsih I, Interaction of Hb adana (HBA2: c.179G>A) with deletional and nondeletional α(+)-thalassemia mutations: diverse hematological and clinical features., Hemoglobin, 37(3), 297-305, 2013 PubMed
  4. Tan JAMA, Kho SL, Ngim CF, Chua KH, Goh AS, Yeoh SL, George E, DNA studies are necessary for accurate patient diagnosis in compound heterozygosity for Hb Adana (HBA2:c.179>A) with deletional or nondeletional α-thalassaemia., Sci Rep, 6(0), 26994, 2016 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2020-09-18 12:46:12 (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.