IthaID: 285



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Black HGVS Name: HBB:c.-504_28del
Hb Name: N/A Protein Info: β nts -454 - 78 deleted

Also known as: 532 bp deletion

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 532 bp
Deletion involves: β

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation: Deletion
Ethnic Origin: African-American
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Waye JS, Cai SP, Eng B, Clark C, Adams JG, Chui DH, Steinberg MH, High hemoglobin A2 beta 0-thalassemia due to a 532-basepair deletion of the 5' beta-globin gene region., Blood, 77(5), 1100-3, 1991 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-06-04 12:12:17 (Show full history)

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