IthaID: 1522


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Malaysian-1 (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: Malay
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

Publications / Origin

  1. Trent RJ, Jones RW, Clegg JB, Weatherall DJ, Davidson R, Wood WG, (A gamma delta beta) thalassaemia: similarity of phenotype in four different molecular defects, including one newly described., British journal of haematology, 57(2), 279-89, 1984
Created on 2010-06-16 16:13:17, Last reviewed on 2014-06-04 10:34:51 (Show full history)

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