IthaID: 1525

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	Belgian (Aγδβ)0	HGVS Name:	NC_000011.10:g.(5200077_5215844)_(5249806_5251160)del
Hb Name:	N/A	Protein Info:	N/A

Also known as:

Comments: The deletion covers 50 kb.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	δβ-thalassaemia
Allele Phenotype:	Gγ(Aγδβ)0
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	N/A
Size:	50 kb
Deletion involves:	Aγ, δ, β, pseudo β

Other details

Type of Mutation:	Deletion
Ethnic Origin:	Belgian
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Breakpoint Determined:	No

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

Losekoot M, Fodde R, Gerritsen EJ, van de Kuit I, Schreuder A, Giordano PC, Vossen JM, Bernini LF, Interaction of two different disorders in the beta-globin gene cluster associated with an increased hemoglobin F production: a novel deletion type of (G) gamma + ((A) gamma delta beta)(0)-thalassemia and a delta(0)-hereditary persistence of fetal hemoglobin determinant., Blood, 77(4), 861-7, 1991 PubMed
Harteveld CL, Voskamp A, Phylipsen M, Akkermans N, den Dunnen JT, White SJ, Giordano PC, Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification., Journal of medical genetics, 42(12), 922-31, 2005 PubMed

Created on 2010-06-16 16:13:17, Last reviewed on 2022-10-13 15:05:10 (Show full history)

A/A	Date	Curator(s)	Comments
1	2010-06-16 16:13:17	The IthaGenes Curation Team	Created
2	2013-10-15 17:28:32	The IthaGenes Curation Team	Reviewed.
3	2018-01-15 18:25:00	The IthaGenes Curation Team	Reviewed. Mutation comment added. Reference added.
4	2022-10-13 15:05:10	The IthaGenes Curation Team	Reviewed. HGVs name corrected.

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