IthaID: 3284



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: --PG HGVS Name: NG_000006.1:g.93628_542759del450131
Hb Name: N/A Protein Info: N/A

Comments: The deletion spans about 450 kb, removing the entire α-globin gene cluster and the globin distal regulatory elements. The 5' deletion breakpoint was located just upstream of the PolR3k gene (between 91540 - 93628), and the 3' breakpoint was located within the RAB11FIP3 gene (between 536986 - 542759).

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 450 kb
Deletion involves: HS40, ζ, α2, α1, NPRL3, HBM, AXIN1

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: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. He S, Qin Q, Huang P, Zhang S, Yi S, Lin L, Zuo Y, Chen Q, Deng J, Zheng C, Chen B, Characterization of a Large Novel α-Globin Gene Cluster Deletion Causing α0-Thalassemia in a Chinese Family., Hemoglobin , 2017 PubMed
Created on 2017-12-13 18:59:12, Last reviewed on (Show full history)

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