IthaID: 35

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CAP +8 (C>T) HGVS Name: HBB:c.-43C>T
Hb Name: N/A Protein Info: N/A

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++ (silent)
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70552
Size: 1 bp
Located at: β
Specific Location: 5'UTR

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: 5'UTR (Transcription)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Ma SK, Ha SY, Chan AY, Chan GC, Lau YL, Chan LC, Two novel beta-thalassemia alleles in the Chinese: the IVS-II-2 (-T) and nucleotide +8 (C-->T) beta-globin gene mutations., Hemoglobin, 24(4), 327-32, 2000 PubMed
  2. Van de Water N, Tan T, Chan G, Cole N, Browett P, A +8 (-->CT) mutation within the 5' untranslated region of beta-globin down-regulates the mRNA transcription., Hemoglobin, 32(3), 247-53, 2008 PubMed


1Mohd Yasin, Norafiza 2020-10-20Report of an update.
Created on 2010-06-16 16:13:14, Last reviewed on 2022-09-22 15:50:10 (Show full history)

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