IthaID: 1521


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Cantonese (Aγδβ)0 HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as:

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: N/A
Size: N/A
Deletion involves: , δ, β, pseudo β

Other details

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

Publications / Origin

  1. Zeng YT, Huang SZ, Chen B, Liang YC, Chang ZM, Harano T, Huisman TH, Hereditary persistence of fetal hemoglobin or (delta beta)o-thalassemia: three types observed in South-Chinese families., Blood, 66(6), 1430-5, 1985
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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