IthaID: 2231



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -α3.7 (type III) HGVS Name: NG_000006.1:g.34570_38381del
Hb Name: N/A Protein Info: N/A

Also known as:

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34570
Size: 3.812 kb
Fusion involves: α2, α1, α3.7 hybrid

Other details

Type of Mutation: Fusion
Ethnic Origin: Melanesian, Polynesian, Thai
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Higgs DR, Hill AV, Bowden DK, Weatherall DJ, Clegg JB, Independent recombination events between the duplicated human alpha globin genes; implications for their concerted evolution., Nucleic Acids Res. , 12(18), 6965-77, 1984 PubMed
  2. Hill AV, Bowden DK, Trent RJ, Higgs DR, Oppenheimer SJ, Thein SL, Mickleson KN, Weatherall DJ, Clegg JB, Melanesians and Polynesians share a unique alpha-thalassemia mutation., Am. J. Hum. Genet. , 37(3), 571-80, 1985 PubMed
  3. Williams TN, Maitland K, Ganczakowski M, Peto TE, Clegg JB, Weatherall DJ, Bowden DK, Red blood cell phenotypes in the alpha + thalassaemias from early childhood to maturity., Br. J. Haematol. , 95(2), 266-72, 1996 PubMed
  4. Charoenwijitkul T, Singha K, Fucharoen G, Sanchaisuriya K, Thepphitak P, Wintachai P, Karnpean R, Fucharoen S, Molecular characteristics of α-thalassemia (3.7 kb deletion) in Southeast Asia: Molecular subtypes, haplotypic heterogeneity, multiple founder effects and laboratory diagnostics., Clin Biochem, 71(0), 31-37, 2019 PubMed
Created on 2013-10-03 11:14:48, Last reviewed on 2021-06-17 15:15:39 (Show full history)

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