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

HbVar

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

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 2014-06-04 10:38:54 (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.

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