IthaID: 2190

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 62-83 (+65 bp) HGVS Name: NG_000007.3:g.70911_70975dup
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The 65bp duplication found in 30-year old man combined with heterozygous -α4.2 thalassemia, αααanti3.7 triplication and the common δ globin variant HbA2’, with clinical presentation of a β0- thalassemia carrier. The high reticulocyte count (6.3%) and minimal splenomegaly are the only indications that this duplication could even lead towards a more severe phenotype. The duplication introduces a stop codon twenty-six amino acids further down the new reading frame leading to a truncated β chain of only 106 residues.


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


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
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

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 2021-10-20 15:32:17 (Show full history)

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