IthaID: 1523


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Malaysian-2 (Aγδβ)0 HGVS Name: NC_000011.10:g.(5207467_5208467)_(5250061_5250240)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: A large deletion that removes the Agamma, delta, and beta genes.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 47376
Size: 42 kb
Deletion involves: , δ, β, pseudo β

Other details

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

Publications / Origin

  1. George E, Faridah K, Trent RJ, Padanilam BJ, Huang HJ, Huisman TH, Homozygosity for a new type of G gamma (A gamma delta beta)zero-thalassemia in a Malaysian male., Hemoglobin, 10(4), 353-63, 1986
Created on 2010-06-16 16:13:17, Last reviewed on 2021-03-16 16:24:43 (Show full history)

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