IthaID: 3070



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: αααα282 HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Comments: The duplication spans a region of 282 kb starting from the telomere to a downstream breakpoint localized to position 282,199 bp. The duplication segment is inserted between 94,054-94,055 bp. Heterozygosity for this duplication defect (6 instead of 4 α-globin genes) associated with normal haemoglobin levels. Co-inheritance with a β-globin gene defect associated with a β-thalassemia intermedia status.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 282 kb
Located at: HS40, ζ, α2, α1, NPRL3

Phenotype

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

Other details

Type of Mutation: Duplication
Ethnic Origin: Chinese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: MLPA, Other

Sequence Viewer

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Publications / Origin

  1. Hu L, Shang X, Yi S, Cai R, Li Z, Liu C, Liang Y, Cai D, Zhang F, Xu X, Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families., Mol. Genet. Genomics , 291(3), 1443-50, 2016 PubMed
Created on 2016-09-06 17:40:11, Last reviewed on 2016-09-07 10:47:51 (Show full history)

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