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].

External Links

Phenotype

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

Location

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

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
  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
Created on 2010-06-16 16:13:14, Last reviewed on 2019-05-31 09:29:33 (Show full history)

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