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

Br J Haematol. 2018 Jan;180(1):160-164. doi: 10.1111/bjh.14294. Epub 2016 Jul 29.

¹ Department of Molecular Pathology, Viapath at King's College Hospital NHS Foundation Trust, London, UK.
² Molecular Haematology, Division of Cancer Studies, King's College London, London, UK.
³ Sickle Cell Branch, National Heart, Lung and Blood Institute/NIH, Bethesda, MD, USA.
⁴ Thalassaemia Centre, Nicosia, Cyprus.
⁵ Paediatric Haematology, Royal Manchester Children's Hospital, Manchester, UK.
⁶ MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
⁷ Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
⁸ The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

No abstract available

Keywords: alpha globin (HBA) gene duplications; next generation sequencing; non-transfusion dependent thalassaemia.

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