IthaID: 1400


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: N/A HGVS Name: N/A
Hb Name: Hb Lepore-Leiden Protein Info: δ-β hybrid

Also known as:

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 7.398 kb
Fusion involves: δ, β

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δβ-thalassaemia
Allele Phenotype:δβ fusion
Associated Phenotypes: N/A

Other details

Type of Mutation: Fusion
Ethnic Origin: Dutch
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Harteveld CL, Wijermans PW, Arkesteijn SG, Van Delft P, Kerkhoffs JL, Giordano PC, Hb Lepore-Leiden: a new delta/beta rearrangement associated with a beta-thalassemia minor phenotype., Hemoglobin, 32(5), 446-53, 2008
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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