IthaID: 3292



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 15 kb deletion HGVS Name: NC_000016.10:g.172736_187935del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Found in unrelated patients from Brazil, the deletion spans approximately 15 kb on the α-globin gene cluster (positions 162735-177934 according to the UCSC Genome Browser, March 2006), extending from the HBZP pseudogene to the downstream region of the HBA1 gene. It was detected by MLPA (MRC-Holland SALSA MLPA P140 C1 HBA kit), although breakpoints were not defined. There is a possibility that this deletion is the same as the --GB deletion [IthaID: 3296].

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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: 15.2 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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. 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 18:38:38, Last reviewed on 2023-11-03 15:51:57 (Show full history)

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