IthaID: 1533



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: 49.3 kb Asian Gγ(Aγδβ)0 HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as: 49.3 kb deletion

Comments: Detected in seven unrelated Canadian families of Asian Indian ancestry. The adult carriers had mild microcytosis and hypochromia with markedly elevated levels of Hb F. Homozygotes had mild microcytosis without significant anaemia.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 49.3 kb
Deletion involves: , δ, β, pseudo β

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δβ-thalassaemia
Allele Phenotype:Gγ(Aγδβ)0
Associated Phenotypes: N/A

Other details

Type of Mutation: Deletion
Ethnic Origin: Asian
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Waye JS, Walker L, Kyriakopoulou LG, Potter MA, Eng B, Characterisation of a novel 49.3 kb Ggamma(Agamma delta beta)(0) -thalassaemia deletion in seven families of Asian descent., British journal of haematology, 138(1), 125-6, 2007 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2019-07-29 10:47:40 (Show full history)

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