IthaID: 426

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: Poly A (AATAAA>AATA--) HGVS Name: HBA2:c.*93_*94delAA
Hb Name: N/A Protein Info: α2 nts 818 - 819 deleted

Context nucleotide sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α+/α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34556
Size: 2 bp
Located at: α2
Specific Location: Poly(A)

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Harteveld CL, Losekoot M, Haak H, Heister GA, Giordano PC, Bernini LF, A novel polyadenylation signal mutation in the alpha 2-globin gene causing alpha thalassaemia., British journal of haematology, 87(1), 139-43, 1994 PubMed
  2. Hall GW, Higgs DR, Murphy P, Villegas A, de Miguel A, A mutation in the polyadenylation signal of the alpha 2 globin gene (AATAAA-->AATA--) as a cause of alpha thalassaemia in Asian indians., Br. J. Haematol. , 88(1), 225-7, 1994 PubMed
  3. Viprakasit V, Ayyub H, May A, Dinucleotide deletion in -alpha3.7 allele causes a severe form of alpha+ thalassaemia., Eur. J. Haematol. , 71(2), 133-6, 2003 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2020-10-02 10:23:10 (Show full history)

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