IthaID: 2175


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: -26 A>C HGVS Name: HBB:c.-76A>C
Hb Name: N/A Protein Info: β nt -26 A>C

Also known as:

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β+
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70519
Size: 1 bp
Located at: β
Specific Location: Promoter

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Promoter (Transcription)
Ethnic Origin: N/A
Molecular mechanism: TATAA box (HBB)
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Waye JS, Nakamura-Garrett LM, Eng B, Kanavakis E, Traeger-Synodinos J, β+-Thalassemia trait due to a novel mutation in the β-globin gene promoter: -26 (A>C) [HBB c.-76A>C]., Hemoglobin , 35(1), 84-6, 2011
Created on 2013-09-30 14:51:00, Last reviewed on 2014-01-16 12:58:32 (Show full history)

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