IthaID: 319



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: --MA HGVS Name: NG_000006.1:g.18964_39864del20901
Hb Name: N/A Protein Info: N/A

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 18964
Size: 20.901 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: Spanish
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Gonzalez-Redondo JM, Gilsanz F, Ricard P, Characterization of a new alpha-thalassemia-1 deletion in a Spanish family., Hemoglobin, 13(2), 103-16, 1989 PubMed
  2. Villegas A, Sánchez J, Carreño DL, Ropero P, González FA, Espinós D, Peñalver MA, Lozano M, Molecular characterization of a new family with alpha-thalassemia-1 (--MA mutation)., Am. J. Hematol. , 49(4), 294-8, 1995 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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