IthaID: 300



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: -α3.7 (type I) HGVS Name: NG_000006.1:g.34164_37967del3804
Hb Name: N/A Protein Info: N/A

Also known as: -α3.7

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34164
Size: 3.804 kb
Fusion involves: α2, α1, α3.7 hybrid

Phenotype

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

Other details

Type of Mutation: Fusion
Ethnic Origin: Worldwide
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Gap-PCR, MLPA

Sequence Viewer

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Frequencies

Publications / Origin

  1. Embury SH, Miller JA, Dozy AM, Kan YW, Chan V, Todd D, Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype., The Journal of clinical investigation, 66(6), 1319-25, 1980 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-10-20 11:03:53 (Show full history)

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