IthaID: 309



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: --SEA HGVS Name: NG_000006.1:g.26264_45564del19301
Hb Name: N/A Protein Info: N/A

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 26264
Size: 19.301 kb
Deletion involves: 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: Southeast Asian
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: MLPA

Sequence Viewer

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Frequencies

Publications / Origin

  1. Pressley L, Higgs DR, Clegg JB, Weatherall DJ, Gene deletions in alpha thalassemia prove that the 5' zeta locus is functional., Proceedings of the National Academy of Sciences of the United States of America, 77(6), 3586-9, 1980 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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