IthaID: 2164

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Tennessean (εγδβ)0 HGVS Name: NG_000007.3:g.10053_21931del
Hb Name: N/A Protein Info: N/A

Also known as:

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: εγδβ-thalassaemia
Allele Phenotype:(εGγAγδβ)0
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 12 kb
Deletion involves: βLCR

Other details

Type of Mutation: Deletion
Ethnic Origin: Tennessean, African-American
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

Publications / Origin

  1. Koenig SC, Becirevic E, Hellberg MS, Li MY, So JC, Hankins JS, Ware RE, McMahon L, Steinberg MH, Luo HY, Chui DH, Sickle cell disease caused by heterozygosity for Hb S and novel LCR deletion: Report of two patients., Am. J. Hematol. , 84(9), 603-6, 2009
Created on 2013-09-30 11:12:59, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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