IthaID: 3295



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: 225 kb deletion HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Comments: The deletion spans about 225 kb on the α-globin gene cluster (positions 46407-271806 according to the UCSC Genome Browser, March 2006). The 5' breakpoint is located within the POLR3K gene, upstream of the distal regulatory elements, and the 3' breakpoint is located within a region between the RGS11 and AXIN1 genes.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 225.4 kb
Deletion involves: HS40, ζ, α2, α1, HBM

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: Brazilian
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Suemasu CN, Kimura EM, Oliveira DM, Bezerra MA, Araújo AS, Costa FF, Sonati MF, Characterization of alpha thalassemic genotypes by multiplex ligation-dependent probe amplification in the Brazilian population., Braz. J. Med. Biol. Res. , 44(1), 16-22, 2011 PubMed
  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 PubMed
Created on 2018-01-09 19:17:17, Last reviewed on 2018-01-10 17:15:16 (Show full history)

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