IthaID: 2566


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Caribbean HGVS Name: NG_000007.3:g.8510_13369del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Found in a child that was compound heterozygote for Hb S.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 8510
Size: 4.859 kb
Deletion involves: βLCR

Other details

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

In silico pathogenicity prediction

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
Created on 2015-12-03 12:03:42, Last reviewed on (Show full history)

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