IthaID: 346

Names and Sequences

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

Also known as:

Comments: Found in the context of a −α3.7 thalassemia chromosome.

External Links

HbVar

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	N/A
Size:	2 bp
Located at:	α3.7 hybrid
Specific Location:	N/A

Other details

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

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

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
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
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 10:43:49 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:15	The IthaGenes Curation Team	Created
2	2013-10-15 17:28:32	The IthaGenes Curation Team	Reviewed.
3	2014-05-06 12:32:29	The IthaGenes Curation Team	Reviewed. Locus location corrected.
4	2014-06-04 10:38:54	The IthaGenes Curation Team	Reviewed. HbVar link added.
5	2020-10-02 10:43:49	The IthaGenes Curation Team	Reviewed. Comment added. Location corrected.

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