IthaID: 1542

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	Dutch I (εγδβ)0	HGVS Name:	NC_000011.10:g.5229432_5329263del
Hb Name:	N/A	Protein Info:	N/A

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	εγδβ-thalassaemia
Allele Phenotype:	(εGγAγδβ)0
Associated Phenotypes:	Haemolytic anaemia [HP:0001878]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	N/A
Size:	99.611 kb
Deletion involves:	βLCR, ε, Aγ, Gγ, δ, pseudo β

Other details

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

In silico pathogenicity prediction

Publications / Origin

Van der Ploeg LH, Konings A, Oort M, Roos D, Bernini L, Flavell RA, gamma-beta-Thalassaemia studies showing that deletion of the gamma- and delta-genes influences beta-globin gene expression in man., Nature, 283(5748), 637-42, 1980

Created on 2010-06-16 16:13:17, Last reviewed on 2021-03-17 11:40:54 (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	2014-04-09 10:14:08	The IthaGenes Curation Team	Reviewed.
4	2021-03-17 11:37:18	The IthaGenes Curation Team	Reviewed. HGVS name corrected. Chromosome and locus location added.
5	2021-03-17 11:39:56	The IthaGenes Curation Team	Reviewed.
6	2021-03-17 11:40:54	The IthaGenes Curation Team	Reviewed. Stand corrected.

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