IthaID: 2554



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: -α28.5 HGVS Name: NG_000006.1g.7065_35627del28563
Hb Name: N/A Protein Info: N/A

Comments: The deletion breakpoint fragment involved Alu repeat sequences, suggesting a homologous recombination event. Phenotypic analysis on the heterozygous carrier of this deletion revealed that it leads to a very mild phenotype. Location: NT_010393.16 from 136211 to 164774

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 7065
Size: 28.563 kb
Deletion involves: ζ, α2

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: N/A

Other details

Type of Mutation: Deletion
Ethnic Origin: Chinese
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: Direct DNA sequencing, MLPA

Sequence Viewer

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Publications / Origin

  1. Yu J, Xie J, Luo L, Li Z, An Alu element-mediated 28.5 kb α-thalassemia deletion found in a Chinese family., Hemoglobin , 38(6), 427-30, 2014 PubMed
Created on 2015-06-16 16:03:06, Last reviewed on 2015-06-16 16:16:34 (Show full history)

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