IthaID: 3214



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: 44.6 kb deletion HGVS Name: NC_000016.9:g.194214_238840del
Hb Name: N/A Protein Info: N/A

Comments: The deletion spans 44.6 kb on the α-globin gene cluster removing both of the duplicated α-globin genes, while the upstream regulatory element HS-40 is left intact. Breakpoints were localized to positions 193637-199336 at the 5' end, and positions 237170-256305 at the 3’ end.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 44.6 kb
Deletion involves: ζ, α2, α1, HBM

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: Chinese
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: Gap-PCR, MLPA

Sequence Viewer

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Publications / Origin

  1. Wang Y, Liu C, Zhang L, Du L, Zhou W, Huang S, Liu L, Yin A, Identification of a novel 44.6-kb deletion causing α(0) -thalassemia in southern China., Int J Lab Hematol , 2017 PubMed
Created on 2017-03-28 16:19:33, Last reviewed on 2017-03-28 16:25:14 (Show full history)

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