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.

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.