IthaID: 2159

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: (εγδβ)0 with α triplication HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The (εγδβ)°-thalassemia deletion is associated with an alpha globin gene triplication. This combination leads to a fetal thalassemic syndrome responsible for hydrops foetalis syndrome requiring multiple intra uterine RBC transfusions.

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: 100 kb
Deletion involves: βLCR, ε, , , δ, β, pseudo β

Other details

Type of Mutation: Deletion
Ethnic Origin: Caucasian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Rose C, Rossignol J, Lambilliotte A, Depret S, Le Metayer N, Pissard S, A novel (epsilongammadeltabeta)(o)-thalassemia deletion associated with an alpha globin gene triplication leading to a severe transfusion dependent fetal thalassemic syndrome., Haematologica, 94(4), 593-4, 2009 PubMed
Created on 2013-09-30 10:13:53, Last reviewed on 2020-01-20 11:01:48 (Show full history)

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