scholarly journals The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark

2021 ◽  
Author(s):  
Eva Leinøe ◽  
Nanna Brøns ◽  
Andreas Ørslev Rasmussen ◽  
Migle Gabrielaite ◽  
Carlo Zaninetti ◽  
...  
Keyword(s):  
Inherited Thrombocytopenia

scholarly journals Application of High-Throughput Sequencing in the Diagnosis of Inherited Thrombocytopenia

2018 ◽  
Vol 24 (9_suppl) ◽  
pp. 94S-103S ◽  
Author(s):  
Qi Wang ◽  
Lijuan Cao ◽  
Guangying Sheng ◽  
Hongjie Shen ◽  
Jing Ling ◽  
...  
Keyword(s):  
High Throughput ◽  
High Throughput Sequencing ◽  
Gene Sequencing ◽  
Hereditary Diseases ◽  
Sequencing Platform ◽  
Pathogenic Variants ◽  
Diagnosis Method ◽  
Inherited Thrombocytopenia ◽  
Thrombotic Diseases ◽  
Next Generation Sequencing Ngs

Inherited thrombocytopenia is a group of hereditary diseases with a reduction in platelet count as the main clinical manifestation. Clinically, there is an urgent need for a convenient and rapid diagnosis method. We introduced a high-throughput, next-generation sequencing (NGS) platform into the routine diagnosis of patients with unexplained thrombocytopenia and analyzed the gene sequencing results to evaluate the value of NGS technology in the screening and diagnosis of inherited thrombocytopenia. From a cohort of 112 patients with thrombocytopenia, we screened 43 patients with hereditary features. For the blood samples of these 43 patients, a gene sequencing platform for hemorrhagic and thrombotic diseases comprising 89 genes was used to perform gene detection using NGS technology. When we combined the screening results with clinical features and other findings, 15 (34.9%) of 43patients were diagnosed with inherited thrombocytopenia. In addition, 19 pathogenic variants, including 8 previously unreported variants, were identified in these patients. Through the use of this detection platform, we expect to establish a more effective diagnostic approach to such disorders.

Inherited Thrombocytopenia and Thrombasthenia in Egyptian Children and Adolescents

2019 ◽  
Vol 36 (1-2) ◽  
pp. 171-180
Author(s):  
Iman A. Ragab ◽  
Mohsen S. Elalfy ◽  
Azza A. G. Tantawy ◽  
Mohammad T. Hamza ◽  
Marwa M. Reda ◽  
...  
Keyword(s):  
Children And Adolescents ◽  
Egyptian Children ◽  
Inherited Thrombocytopenia

scholarly journals NF‐E2 mutation as a novel cause for inherited thrombocytopenia

2020 ◽  
Vol 189 (2) ◽  
Author(s):  
Anderson Dik Wai Luk ◽  
Xingtian Yang ◽  
Ana Patricia Alcasabas ◽  
Roxanne Casis Hao ◽  
Koon‐Wing Chan ◽  
...  
Keyword(s):  
Inherited Thrombocytopenia

SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia

2016 ◽  
Vol 115 (05) ◽  
pp. 1076-1079 ◽  
Author(s):  
Caterina Marconi ◽  
Christian A. Di Buduo ◽  
Serena Barozzi ◽  
Flavia Palombo ◽  
Simonetta Pardini ◽  
...  
Keyword(s):  
Large Series ◽  
Inherited Thrombocytopenia ◽  
Supplementary Material

Supplementary Material to this article is available online at www.thrombosis-online.com.

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