IthaID: 346



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Init CD ACCATG>--CATG HGVS Name: HBA2:c.-3delAC
Hb Name: N/A Protein Info: N/A

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33773
Size: 2 bp
Located at: α3.7 hybrid
Specific Location: Exon 1

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Initiation codon (Translation)
Ethnic Origin: North African, Mediterranean
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Morlé F, Lopez B, Henni T, Godet J, alpha-Thalassaemia associated with the deletion of two nucleotides at position -2 and -3 preceding the AUG codon., The EMBO journal, 4(5), 1245-50, 1985 PubMed
  2. Morle F, Starck J, Godet J, Alpha-thalassemia due to the deletion of nucleotides -2 and -3 preceding the AUG initiation codon affects translation efficiency both in vitro and in vivo., Nucleic Acids Res. , 14(8), 3279-92, 1986 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 2014-06-04 10:38:54 (Show full history)

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