title: Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis.
authors.affiliation: Department of Molecular Pathology, Viapath at King's College Hospital NHS Foundation Trust, London, UK.|Molecular Haematology, Division of Cancer Studies, King's College London, London, UK.
authors.forename: Barnaby
authors.initials: B
authors.lastname: Clark
authors.affiliation: Molecular Haematology, Division of Cancer Studies, King's College London, London, UK.
authors.forename: Claire
authors.initials: C
authors.lastname: Shooter
authors.affiliation: Department of Molecular Pathology, Viapath at King's College Hospital NHS Foundation Trust, London, UK.
authors.forename: Frances
authors.initials: F
authors.lastname: Smith
authors.affiliation: Department of Molecular Pathology, Viapath at King's College Hospital NHS Foundation Trust, London, UK.
authors.forename: David
authors.initials: D
authors.lastname: Brawand
authors.affiliation: Department of Molecular Pathology, Viapath at King's College Hospital NHS Foundation Trust, London, UK.
authors.forename: Laura
authors.initials: L
authors.lastname: Steedman
authors.affiliation: Department of Molecular Pathology, Viapath at King's College Hospital NHS Foundation Trust, London, UK.
authors.forename: Matthew
authors.initials: M
authors.lastname: Oakley
authors.affiliation: Department of Molecular Pathology, Viapath at King's College Hospital NHS Foundation Trust, London, UK.
authors.forename: Peter
authors.initials: P
authors.lastname: Rushton
authors.affiliation: Molecular Haematology, Division of Cancer Studies, King's College London, London, UK.
authors.forename: Helen
authors.initials: H
authors.lastname: Rooks
authors.affiliation: Sickle Cell Branch, National Heart, Lung and Blood Institute/NIH, Bethesda, MD, USA.
authors.forename: Xunde
authors.initials: X
authors.lastname: Wang
authors.affiliation: Thalassaemia Centre, Nicosia, Cyprus.
authors.forename: Anthi
authors.initials: A
authors.lastname: Drousiotou
authors.affiliation: Thalassaemia Centre, Nicosia, Cyprus.
authors.forename: Andriani
authors.initials: A
authors.lastname: Kyrri
authors.affiliation: Thalassaemia Centre, Nicosia, Cyprus.
authors.forename: Michael
authors.initials: M
authors.lastname: Hadjigavriel
authors.affiliation: Paediatric Haematology, Royal Manchester Children's Hospital, Manchester, UK.
authors.forename: Andrew
authors.initials: A
authors.lastname: Will
authors.affiliation: MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
authors.forename: Chris
authors.initials: C
authors.lastname: Fisher
authors.affiliation: MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
authors.forename: Douglas R
authors.initials: DR
authors.lastname: Higgs
authors.affiliation: Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
authors.forename: Marion
authors.initials: M
authors.lastname: Phylipsen
authors.affiliation: Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
authors.forename: Cornelis
authors.initials: C
authors.lastname: Harteveld
authors.affiliation: The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
authors.forename: Marina
authors.initials: M
authors.lastname: Kleanthous
authors.affiliation: Molecular Haematology, Division of Cancer Studies, King's College London, London, UK.|Sickle Cell Branch, National Heart, Lung and Blood Institute/NIH, Bethesda, MD, USA.
authors.forename: Swee Lay
authors.initials: SL
authors.lastname: Thein
mesh_terms: D000483:Alleles; D020440:Gene Duplication; D056726:Genetic Association Studies; D023281:Genomics / Q000379:methods; D005838:Genotype; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D040582:Inheritance Patterns; D005810:Multigene Family; D009154:Mutation; D010375:Pedigree; D055542:alpha-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D055542:alpha-Globins
keywords: alpha globin (HBA) gene duplications; next generation sequencing; non-transfusion dependent thalassaemia