IthaID: 1533

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 49.3 kb Gγ(Aγδβ)0 Asian del HGVS Name: NC_000011.10:g.5201244_5250542del
Hb Name: N/A Protein Info: N/A

Also known as:

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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


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

Other details

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

In silico pathogenicity prediction

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
  2. Mayuranathan T, Rayabaram J, Das R, Arora N, Edison ES, Chandy M, Srivastava A, Velayudhan SR, Identification of rare and novel deletions that cause (δβ)(0) -thalassaemia and hereditary persistence of foetal haemoglobin in Indian population., Eur. J. Haematol. , 92(6), 514-20, 2014 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2019-09-26 16:24:32 (Show full history)

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