IthaID: 277


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: Poly A (-TA); (AATAAA>AAAA) HGVS Name: HBB:c.*110_*111delTA
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
GGCCTTGAGCATCTGGATTCTGCCTAA [-/TA] AAAAACATTTATTTTCATTGCAAT (Strand: -)

Also known as:

Comments: Found in a French β-thalassaemic patient originating from Normandy. Found in an African American presenting with typical β-thal trait.

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 72128
Size: 2 bp
Located at: β
Specific Location: 3'UTR, Poly(A)

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: RNA cleavage - Poly(A) signal (mRNA Processing)
Ethnic Origin: French, African-American
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Frequencies

Publications / Origin

  1. Ghanem N, Girodon E, Vidaud M, Martin J, Fanen P, Plassa F, Goossens M, A comprehensive scanning method for rapid detection of beta-globin gene mutations and polymorphisms., Human mutation, 1(3), 229-39, 1992
  2. Kimberland ML, Boehm CD, Kazazian HH, Two novel beta-thalassemia alleles: poly A signal (AATAAA-->AAAA) and -92 C-->T., Human mutation, 5(3), 275-6, 1995
Created on 2010-06-16 16:13:15, Last reviewed on 2020-10-02 10:20:52 (Show full history)

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