IthaID: 310



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: --THAI HGVS Name: NG_000006.1:g.10664_44164del33501
Hb Name: N/A Protein Info: N/A

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 10664
Size: 33.501 kb
Deletion involves: ζ, α2, α1

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Deletion
Ethnic Origin: Thai
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: Gap-PCR, MLPA

Sequence Viewer

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Frequencies

Publications / Origin

  1. Fischel-Ghodsian N, Vickers MA, Seip M, Winichagoon P, Higgs DR, Characterization of two deletions that remove the entire human zeta-alpha globin gene complex (- -THAI and - -FIL)., British journal of haematology, 70(2), 233-8, 1988 PubMed
  2. Eng B, Patterson M, Borys S, Chui DH, Waye JS, PCR-based diagnosis of the Filipino (--(FIL)) and Thai (--(THAI)) alpha-thalassemia-1 deletions., Am. J. Hematol. , 63(1), 54-6, 2000 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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