IthaID: 2190

Names and Sequences

Functionality:	Globin gene causative mutation
Common Name:	CD 83 (+65 bp duplication)	HGVS Name:	HBB:c.251_252ins65
Hb Name:	N/A	Protein Info:	N/A

External Links

No available links

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	70975
Size:	65 bp
Located at:	β

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	β-thalassaemia
Allele Phenotype:	β0
Associated Phenotypes:	Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation:	Duplication
Ethnic Origin:	Ghanaian
Inheritance:	Recessive
DNA Sequence Determined:	No
Detection Methods:	Direct DNA sequencing

Sequence Viewer

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Publications / Origin

Frischknecht H, Dutly F, A 65 bp duplication/insertion in exon II of the beta globin gene causing beta0-thalassemia., Haematologica , 92(3), 423-4, 2007 PubMed

Created on 2013-09-30 17:07:53, Last reviewed on 2017-01-24 12:53:57 (Show full history)

A/A	Date	Curator(s)	Comments
1	2013-09-30 17:07:53	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2015-01-08 16:06:31	The IthaGenes Curation Team	Reviewed. Common name corrected.
4	2015-12-07 11:28:13	The IthaGenes Curation Team	Reviewed. Mutation type corrected
5	2017-01-24 12:53:57	The IthaGenes Curation Team	Reviewed. DNA Info updated.

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