IthaID: 3274



Names and Sequences

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

Comments: The deletion removes the sub-telomeric region of the short arm of chromosome 16 and extends to a region of 1.8 kb downstream of the HBA1 gene. The entire α-globin gene culster is removed, including the SNRNP25, RHBDF1, MPG and NPRL3 genes.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 125 kb
Deletion involves: HS40, ζ, α2, α1, HBM

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: N/A

Other details

Type of Mutation: Deletion
Ethnic Origin: Portuguese
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Ferrão J, Silva M, Gonçalves L, Gomes S, Loureiro P, Coelho A, Miranda A, Seuanes F, Reis AB, Pina F, Maia R, Kjöllerström P, Monteiro E, Lacerda JF, Lavinha J, Gonçalves J, Faustino P, Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia., Ann. Hematol. , 96(11), 1921-1929, 2017 PubMed
Created on 2017-11-08 20:27:01, Last reviewed on 2017-11-08 20:32:36 (Show full history)

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