IthaID: 2253


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --ZW HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as:

External Links

No available links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: N/A
Deletion involves: HS40, ζ, α2, α1

Other details

Type of Mutation: Deletion
Ethnic Origin: Chinese, South East Asian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

Publications / Origin

  1. Waye JS, Eng B, Chui DH, Identification of an extensive zeta-alpha globin gene deletion in a Chinese individual., Br. J. Haematol. , 80(3), 378-80, 1992
  2. Horsley SW, Daniels RJ, Anguita E, Raynham HA, Peden JF, Villegas A, Vickers MA, Green S, Waye JS, Chui DH, Ayyub H, MacCarthy AB, Buckle VJ, Gibbons RJ, Kearney L, Higgs DR, Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects., Eur. J. Hum. Genet. , 9(3), 217-25, 2001
Created on 2013-10-03 17:51:49, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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