IthaID: 41

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CAP +45 (G>C) HGVS Name: HBB:c.-6G>C
Hb Name: Hb Odisha Protein Info: N/A

Also known as:

Comments: The β+45 G>C mutation is found in the Kozak sequence of the β-globin gene at the position -6 upstream the translation initiation codon ATG. Found in a family from Puglia, Italy; assymptomatic in the heterozygotes, worsened hematological phenotype and a more unbalanced β/α biosynthetic ratio in compound heterozygotes. mRNA analysis did not reveal transcriptional alterations, while in vitro experiments demonstrated an impairement of translation by about 30% [PMID: 14687034]. Found as a heterozygote in an Indian individual with no information on hematologic or phenotypic data [PMID: 24099628].

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: 70589
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: Italian, Indian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

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. De Angioletti M, Lacerra G, Sabato V, Carestia C, Beta+45 G --> C: a novel silent beta-thalassaemia mutation, the first in the Kozak sequence., British journal of haematology, 124(2), 224-31, 2004 PubMed
  2. Sahoo SS, Biswal S, Dixit M, Distinctive mutation spectrum of the HBB gene in an urban eastern Indian population., Hemoglobin , 38(1), 33-8, 2014 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2019-05-31 09:29:33 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.