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

被引：24

作者：

Clark, Barnaby ^{[1
,2
]}

Shooter, Claire ^{[2
]}

Smith, Frances ^{[1
]}

Brawand, David ^{[1
]}

Steedman, Laura ^{[1
]}

Oakley, Matthew ^{[1
]}

Rushton, Peter ^{[1
]}

Rooks, Helen ^{[2
]}

Wang, Xunde ^{[3
]}

Drousiotou, Anthi ^{[4
]}

Kyrri, Andriani ^{[4
]}

Hadjigavriel, Michael ^{[4
]}

Will, Andrew ^{[5
]}

Fisher, Chris ^{[6
]}

Higgs, Douglas R. ^{[6
]}

Phylipsen, Marion ^{[7
]}

Harteveld, Cornelis ^{[7
]}

Kleanthous, Marina ^{[8
]}

Thein, Swee Lay ^{[2
,3
]}

机构：

[1] Kings Coll Hosp NHS Fdn Trust, Viapath, Dept Mol Pathol, London, England

[2] Kings Coll London, Div Canc Studies, Mol Haematol, London, England

[3] NHLBI, Sickle Cell Branch, NIH, Bldg 10, Bethesda, MD 20892 USA

[4] Thalassaemia Ctr, Nicosia, Cyprus

[5] Royal Manchester Childrens Hosp, Paediat Haematol, Manchester, Lancs, England

[6] Univ Oxford, MRC Weatherall Inst Mol Med, Oxford, England

[7] Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands

[8] Cyprus Inst Neurol & Genet, Nicosia, Cyprus

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2018年 / 180卷 / 01期

关键词：

alpha globin (HBA) gene duplications; non-transfusion dependent thalassaemia; next generation sequencing; GENE-CLUSTER; ASSOCIATION;

D O I：

10.1111/bjh.14294

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：160 / 164

页数：5

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