IthaID: 315



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: --SA HGVS Name: NG_000006.1:g.19464_43064del23601
Hb Name: N/A Protein Info: N/A

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 19464
Size: 23.601 kb
Deletion involves: 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: Yes
Detection Methods: MLPA

Sequence Viewer

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Frequencies

Publications / Origin

  1. Vandenplas S, Higgs DR, Nicholls RD, Bester AJ, Mathew CG, Characterization of a new alpha zero thalassaemia defect in the South African population., British journal of haematology, 66(4), 539-42, 1987 PubMed
  2. Shaji RV, Eunice SE, Baidya S, Srivastava A, Chandy M, Determination of the breakpoint and molecular diagnosis of a common alpha-thalassaemia-1 deletion in the Indian population., Br. J. Haematol. , 123(5), 942-7, 2003 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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