Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis-Reference-Cited by-同舟云学术

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

Published:2016-07-29 Issue:1 Volume:180 Page:160-164
ISSN:0007-1048
Container-title:British Journal of Haematology
language:en
Short-container-title:Br J Haematol

Author:

Clark Barnaby¹²,Shooter Claire²,Smith Frances¹,Brawand David¹,Steedman Laura¹,Oakley Matthew¹,Rushton Peter¹,Rooks Helen²,Wang Xunde³,Drousiotou Anthi⁴,Kyrri Andriani⁴,Hadjigavriel Michael⁴,Will Andrew⁵,Fisher Chris⁶,Higgs Douglas R.⁶,Phylipsen Marion⁷,Harteveld Cornelis⁷,Kleanthous Marina⁸,Thein Swee Lay²³

Affiliation:

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

Publisher

Wiley

Subject

Hematology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjh.14294/fullpdf

Reference10 articles.

1. α-thalassaemia;Harteveld;Orphanet Journal of Rare Diseases,2010

2. Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients;Harteveld;Blood Cells, Molecules, & Diseases,2008

3. Association of an alpha-globin gene cluster duplication and heterozygous beta-thalassemia in a patient with a severe thalassemia syndrome;Jiang;Hemoglobin,2015

4. Thalassemia intermedia caused by 16p13.3 sectional duplication in a beta-thalassemia heterozygous child;Liu;Pediatric Hematology and Oncology,2015

5. Next generation sequencing identifies a novel rearrangement in the HBB cluster permitting to-the-base characterization;Shooter;Human Mutation,2015a

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