IthaID: 3265

Names and Sequences

Functionality:	Disease modifying mutation	Pathogenicity:	N/A
Common Name:	α-globin cluster triplication	HGVS Name:	NC_000016.10:g.(53322_113530)_(181203_206337)dup

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Comments: Triplication of the entire α-globin gene cluster and the regulatory region (HS-40) of the α-globin gene. Found in combination with heterozygous β-thalassaemia, resulting in a clinical presentation of thalassaemia intermedia. Identified by whole exome sequencing.

External Links

No available links

Phenotype

Allele Phenotype (Cis):	N/A
Allele Phenotype (Trans):	N/A
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	N/A
Size:	N/A
Located at:	HS40, ζ, α2, α1, HBM

Other details

Type of Mutation:	Duplication
Ethnic Origin:	Eastern-European & Ashkenazi Jew
Molecular mechanism:	N/A
Inheritance:	N/A
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Steinberg-Shemer O, Ulirsch JC, Noy-Lotan S, Krasnov T, Attias D, Dgany O, Laor R, Sankaran VG, Tamary H, Whole exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia., Cold Spring Harb Mol Case Stud , 2017 PubMed

Created on 2017-09-27 17:50:12, Last reviewed on 2021-12-01 08:38:27 (Show full history)

A/A	Date	Curator(s)	Comments
1	2017-09-27 17:50:12	The IthaGenes Curation Team	Created
2	2021-07-27 18:36:54	The IthaGenes Curation Team	Reviewed. Thalassaemia type corrected.
3	2021-12-01 08:38:27	The IthaGenes Curation Team	Reviewed. Functionality corrected.

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