Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis.

Clark B.; Shooter C.; Smith F.; Brawand D.; Steedman L.; Oakley M.; Rushton P.; Rooks H.; Wang X.; Drousiotou A.; Kyrri A.; Hadjigavriel M.; Will A.; Fisher C.; Higgs DR.; Phylipsen M.; Harteveld C.; Kleanthous M.; Thein SL.

Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis.

Clark B., Shooter C., Smith F., Brawand D., Steedman L., Oakley M., Rushton P., Rooks H., Wang X., Drousiotou A., Kyrri A., Hadjigavriel M., Will A., Fisher C., Higgs DR., Phylipsen M., Harteveld C., Kleanthous M., Thein SL.

Original publication

DOI

10.1111/bjh.14294

Type

Journal article

Journal

Br J Haematol

Publication Date

01/2018

Volume

180

Pages

160 - 164

Keywords

alpha globin (HBA) gene duplications, next generation sequencing, non-transfusion dependent thalassaemia, Alleles, Gene Duplication, Genetic Association Studies, Genomics, Genotype, High-Throughput Nucleotide Sequencing, Humans, Inheritance Patterns, Multigene Family, Mutation, Pedigree, alpha-Globins, beta-Thalassemia