IthaID: 3294


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 22 kb deletion HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans approximately 22 kb on the α-globin gene cluster (positions 159487-181215 according to the UCSC Genome Browser, March 2006), removing both α-globin genes. The 5' breakpoint is located within a region usptream of the HBZP pseudogene, and the 3' breakpoint is located within a region between the HBQ1 and LUC7L genes. It is similar to a deletion reported in [PMID: 1715793].

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: 21.729 kb
Deletion involves: α2, α1, HBM

Other details

Type of Mutation: Deletion
Ethnic Origin: Brazilian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

Publications / Origin

  1. Romao L, Osorio-Almeida L, Higgs DR, Lavinha J, Liebhaber SA, Alpha-thalassemia resulting from deletion of regulatory sequences far upstream of the alpha-globin structural genes., Blood , 78(6), 1589-95, 1991
  2. Mota NO, Kimura EM, Ferreira RD, Pedroso GA, Albuquerque DM, Ribeiro DM, Santos MNN, Bittar CM, Costa FF, Sonati MF, Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients., Genet. Mol. Biol. , 40(4), 768-773, 2017
Created on 2018-01-09 19:02:34, Last reviewed on 2018-01-10 17:12:50 (Show full history)

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