IthaID: 3340

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Brazilian (εγδβ)0 HGVS Name: NC_000011.10:g.(5106498_5151836)_(5324046_5390135)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion length is estimated to be between 172-283 kb (positions 5129617-5301811, according to the UCSC Genome Browser, March 2006). This deletion removes the entire β cluster, from the OR51B2 to OR52A1 olfactory receptor genes flanking the cluster in the 5' and 3' regions, respectively. The 5' breakpoint of this deletion is between the OR51M1 and OR51B2 genes, while the 3' breakpoint is between the OR52A1 gene and 25257 nt downstream of the OR52A5 gene. Analysis method: MLPA P102 C1 HBB kit (MRC Holland).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: εγδβ-thalassaemia
Allele Phenotype:(εGγAγδβ)0
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 172 kb
Deletion involves: βLCR, ε, , , δ, β, pseudo β, OR51V1, OR51B2

Other details

Type of Mutation: Deletion
Ethnic Origin: Brazilian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Ferreira RD, Mota NO, Pedroso GA, Kimura EM, Geraldo APM, Santos MNN, Costa FF, Sonati MF, First report of εγδβ -thalassemia in a Brazilian family., Int J Lab Hematol , 2018 PubMed
Created on 2018-07-02 17:44:01, Last reviewed on (Show full history)

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