IthaID: 2262



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: --80 HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 80 kb
Deletion involves: HS40, 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: African-American
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Milner PF, Huisman TH, Studies of the proporation and synthesis of haemoblogin C Philadelphia in red cells of heterozygotes, a homozygote, and a heterozygote for both haemoglobin G and alpha thalassaemia., Br. J. Haematol. , 34(2), 207-20, 1976 PubMed
  2. Huisman TH, Gu LH, Liu JC, Fei YJ, Walker EL, Black alpha-thalassemia-1: partial characterization of an approximately 80 kb deletion which includes the zeta- and alpha-globin genes., Hemoglobin , 17(4), 345-53, 1993 PubMed
Created on 2013-10-03 18:26:07, Last reviewed on 2014-06-04 10:58:12 (Show full history)

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