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.

External Links

No available links

Phenotype

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

Location

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

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
Created on 2013-09-30 10:13:53, Last reviewed on 2020-01-20 11:01:48 (Show full history)

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