IthaID: 2171

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: -71 C>T HGVS Name: HBB:c.-121C>T
Hb Name: N/A Protein Info: β nt -71 C>T

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70474
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: Iranian, Omani
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Akbari MT, Izadi P, Izadyar M, Kyriacou K, Kleanthous M, Molecular basis of thalassemia intermedia in Iran., Hemoglobin, 32(5), 462-70, 2008 PubMed
  2. Al Zadjali S, Wali Y, Al Lawatiya F, Gravell D, Alkindi S, Al Falahi K, Krishnamoorthy R, Daar S, The β-globin promoter -71 C>T mutation is a β+ thalassemic allele., Eur. J. Haematol. , 87(5), 457-60, 2011 PubMed
  3. Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016 PubMed
Created on 2013-09-30 13:26:26, Last reviewed on 2020-02-25 09:23:22 (Show full history)

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