IthaID: 324


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --115 HGVS Name: NC_000016.10:g.(13158_13584)_(39907_41256)del
Hb Name: N/A Protein Info: N/A

Also known as:

External 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: 115 kb
Deletion involves: ζ, α2, α1

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Felice AE, Cleek MP, McKie K, McKie V, Huisman TH, The rare alpha-thalassemia-1 of blacks is a zeta alpha-thalassemia-1 associated with deletion of all alpha- and zeta-globin genes., Blood , 63(5), 1253-7, 1984
Created on 2010-06-16 16:13:15, Last reviewed on 2014-06-04 10:56:08 (Show full history)

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