IthaID: 1542



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Dutch I (εγδβ)0 HGVS Name: NC_000011.8:g.5207238_5307069del99611
Hb Name: N/A Protein Info: deletion of 99611 nts from the ε gene to β gene

External Links

Location

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

Phenotype

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

Other details

Type of Mutation: Deletion
Ethnic Origin: Dutch
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. 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 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2014-04-09 10:14:08 (Show full history)

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