IthaID: 2190



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 62-83 (+65 bp) HGVS Name: HBB:c.187_251dup
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The 65bp duplication first reported in a 30-year-old Ghanaian male and later in a 31-year-old African-Canadian female and her father. The duplication introduces a stop codon twenty-six amino acids further down the new reading frame leading to a truncated β chain of only 109 residues. In all 3 cases, the duplication found in association with the common δ globin variant Hb A2' [IthaID:1356] and all presented with Hb A2' variant and normal levels of HbA2. These findings support that the 65bp duplication and the δ globin variant Hb A2' are in cis.

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70911
Size: 65 bp
Located at: β

Other details

Type of Mutation: Duplication
Ethnic Origin: Ghanaian, African-Canadian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Frischknecht H, Dutly F, A 65 bp duplication/insertion in exon II of the beta globin gene causing beta0-thalassemia., Haematologica , 92(3), 423-4, 2007 PubMed
  2. Waye JS, Eng B, Hellens L, Hohenadel BA, Nakamura LM, Walker L, Normal Hb A2 β-thalassemia trait: frameshift mutation (HBB: c.187_251dup) in cis with the Hb A2' δ-globin gene missense mutation (HBD: c.49G>C)., Hemoglobin , 37(2), 201-4, 2013 PubMed
Created on 2013-09-30 17:07:53, Last reviewed on 2022-04-12 16:40:05 (Show full history)

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