IthaID: 329


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: --KOL HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as:

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 33.3 kb
Deletion involves: ζ, α2, α1

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Deletion
Ethnic Origin: Indian
Inheritance: Recessive
DNA Breakpoint Determined: No

Publications / Origin

  1. Sarkar AA, Banerjee S, Chandra S, Ghosh M, Banerjee D, Choudhury MD, Das M, Dasgupta UB, A novel 33.3 kb deletion (- -KOL) in the alpha-globin gene cluster: a brief report on deletional alpha-thalassaemia in the heterogeneous eastern Indian population., British journal of haematology, 130(3), 454-7, 2005
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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