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:
GGCTCTGCCCAGGTTAAGGGCCACG [A/G/T] CAAGAAGGTGGCCGACGCGCTGACC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHDKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Phenotype

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]

Location

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

Sequence Viewer

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Frequencies

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)

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