IthaID: 3345



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CAP +22 (G>T) HGVS Name: HBB:c.-29G>T
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
GCTTACATTTGCTTCTGACACAACT [T>G] TGTTCACTAGCAACCTCAAACAGAC (Strand: -)

Comments: Silent β-globin mutation found in a heterozygous state and in compound heterozygosity with the β0-thalassaemic allele HBB:c.92+1G>A [ithaID=101]. Following a pregnancy, the combination of the two alleles led to severe anemia with thansfusion-dependent β-thalassaemia intermedia phenotype.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70566
Size: 1 bp
Located at: β
Specific Location: 5'UTR

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: 5'UTR (Transcription)
Ethnic Origin: Italian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Unknown

Sequence Viewer

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Publications / Origin

  1. Vinciguerra M, Passarello C, Cassarà F, Leto F, Cannata M, Calvaruso G, Renda D, Maggio A, Giambona A, Coheredity of a new silent mutation: c.-29G>T, with a severe β-thal mutation in a patient with β-thalassemia intermediate., Int J Lab Hematol, 40(2), e17-e20, 2018 PubMed
Created on 2019-03-26 16:45:09, Last reviewed on (Show full history)

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