IthaID: 346

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -α3.7;Init CD ACCATG>--CATG HGVS Name: NG_000006.1:g.[33773_33774del;34247_38050del]
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: AC deletion at the -2 and -3 positions preceding the initiation codon (ATG) found on a chromosome that carries the -3.7 kb deletion (-α3.7). HGVS name reports deletion breakpoints in -α3.7 (type I) [IthaID: 300] and should be used with caution.

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: 33773 or 34247
Size: 2 bp or 3.804 kb
Located at: α2, α3.7 hybrid

Other details

Type of Mutation: Combination
Ethnic Origin: North African, Mediterranean
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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 2024-03-08 10:55:36 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.