IthaID: 3935



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 12.4 kb Mediterranean deletion HGVS Name: NG_000007.3:g.2798_15161delinsAGAGCCCT
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion removes the HS3, HS4 and HS5 elements of the βLCR. Found in a 5-year Canadian boy of Italian descent presented with a thalassaemic phenotype without history of perinatal anemia.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 2798
Size: 12.364 kb
Deletion involves: βLCR

Other details

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

Sequence Viewer

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Publications / Origin

  1. Amid A, Cheong M, Eng B, Hanna M, Hohenadel BA, Nakamura LM, Walker L, Odame I, Kirby-Allen M, Waye JS, Hb S/β+-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the β locus control region., Haematologica , 100(5), e166-8, 2015 PubMed
Created on 2022-05-27 09:36:29, Last reviewed on (Show full history)

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