Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding
Inherited thrombocytopenia (IT) is comprised of a group of hereditary disorders characterized by a reduced platelet count as the main feature, and often with abnormal platelet function, which can subsequently lead to impaired haemostasis. Inherited thrombocytopenia results from genetic mutations in...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2019-06-01
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| Series: | Frontiers in Cardiovascular Medicine |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fcvm.2019.00080/full |
| _version_ | 1818060943758721024 |
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| author | Ibrahim Almazni Rachel Stapley Neil V. Morgan |
| author_facet | Ibrahim Almazni Rachel Stapley Neil V. Morgan |
| author_sort | Ibrahim Almazni |
| collection | DOAJ |
| description | Inherited thrombocytopenia (IT) is comprised of a group of hereditary disorders characterized by a reduced platelet count as the main feature, and often with abnormal platelet function, which can subsequently lead to impaired haemostasis. Inherited thrombocytopenia results from genetic mutations in genes implicated in megakaryocyte differentiation and/or platelet formation and clearance. The identification of the underlying causative gene of IT is challenging given the high degree of heterogeneity, but important due to the presence of various clinical presentations and prognosis, where some defects can lead to hematological malignancies. Traditional platelet function tests, clinical manifestations, and hematological parameters allow for an initial diagnosis. However, employing Next-Generation Sequencing (NGS), such as Whole Genome and Whole Exome Sequencing (WES) can be an efficient method for discovering causal genetic variants in both known and novel genes not previously implicated in IT. To date, 40 genes and their mutations have been implicated to cause many different forms of inherited thrombocytopenia. Nevertheless, despite this advancement in the diagnosis of IT, the molecular mechanism underlying IT in some patients remains unexplained. In this review, we will discuss the genetics of thrombocytopenia summarizing the recent advancement in investigation and diagnosis of IT using phenotypic approaches, high-throughput sequencing, targeted gene panels, and bioinformatics tools. |
| first_indexed | 2024-12-10T13:40:27Z |
| format | Article |
| id | doaj.art-cbab4ec050e744a6a80073e84a583a66 |
| institution | Directory Open Access Journal |
| issn | 2297-055X |
| language | English |
| last_indexed | 2024-12-10T13:40:27Z |
| publishDate | 2019-06-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cardiovascular Medicine |
| spelling | doaj.art-cbab4ec050e744a6a80073e84a583a662022-12-22T01:46:42ZengFrontiers Media S.A.Frontiers in Cardiovascular Medicine2297-055X2019-06-01610.3389/fcvm.2019.00080467225Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With BleedingIbrahim AlmazniRachel StapleyNeil V. MorganInherited thrombocytopenia (IT) is comprised of a group of hereditary disorders characterized by a reduced platelet count as the main feature, and often with abnormal platelet function, which can subsequently lead to impaired haemostasis. Inherited thrombocytopenia results from genetic mutations in genes implicated in megakaryocyte differentiation and/or platelet formation and clearance. The identification of the underlying causative gene of IT is challenging given the high degree of heterogeneity, but important due to the presence of various clinical presentations and prognosis, where some defects can lead to hematological malignancies. Traditional platelet function tests, clinical manifestations, and hematological parameters allow for an initial diagnosis. However, employing Next-Generation Sequencing (NGS), such as Whole Genome and Whole Exome Sequencing (WES) can be an efficient method for discovering causal genetic variants in both known and novel genes not previously implicated in IT. To date, 40 genes and their mutations have been implicated to cause many different forms of inherited thrombocytopenia. Nevertheless, despite this advancement in the diagnosis of IT, the molecular mechanism underlying IT in some patients remains unexplained. In this review, we will discuss the genetics of thrombocytopenia summarizing the recent advancement in investigation and diagnosis of IT using phenotypic approaches, high-throughput sequencing, targeted gene panels, and bioinformatics tools.https://www.frontiersin.org/article/10.3389/fcvm.2019.00080/fullinherited thrombocytopeniaplateletsmegakaryocytesgenesmutationsbleeding |
| spellingShingle | Ibrahim Almazni Rachel Stapley Neil V. Morgan Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding Frontiers in Cardiovascular Medicine inherited thrombocytopenia platelets megakaryocytes genes mutations bleeding |
| title | Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding |
| title_full | Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding |
| title_fullStr | Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding |
| title_full_unstemmed | Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding |
| title_short | Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding |
| title_sort | inherited thrombocytopenia update on genes and genetic variants which may be associated with bleeding |
| topic | inherited thrombocytopenia platelets megakaryocytes genes mutations bleeding |
| url | https://www.frontiersin.org/article/10.3389/fcvm.2019.00080/full |
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