IthaID: 2241


Names and Sequences

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

Also known as:

External Links

No available links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 80 kb
Deletion involves: HS40, ζ, α2, α1

Other details

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

Publications / Origin

  1. Villegas A, Ropero P, Anguita E, Hernández A, Polo M, Ataúlfo González F, [Molecular characterization of two new mutations of α° thalassemia in two Spanish families (mutation --(ED) and --(GP))]., Med Clin (Barc) , 136(15), 674-7, 2011
Created on 2013-10-03 15:55:12, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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