ReviewFrontiers in cardiovascular medicine2019
Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding.
Review in Frontiers in cardiovascular medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 62 citations in OpenAlex.
- GFI1B mutations define an emerging form of inherited thrombocytopenia: insights from a case report and literature review.Annals of hematology · 2026Review
- Fifteen years of pediatric immune thrombocytopenia in a national cohort: chronicity, diagnostic challenges, and treatment patterns-single center experience.Frontiers in pediatrics · 2026Article
- Molecular diagnosis of inherited platelet disorders: a tale of two realities - advanced vs. resource-limited setting.Thrombosis journal · 2025Review
- Clinical and Molecular Spectrum of MYH9-Thrombocytopenia: Insights from a Single Centric Pediatric Cohort.Children (Basel, Switzerland) · 2025Article
- Molecular Pathogenesis of Inherited Platelet Dysfunction.Biomolecules · 2025Review
- α-Actinin-1 in Megakaryocytes: Its Structure, Interacting Proteins and Implications for Thrombopoiesis.Biomedicines · 2025Review
- Human and mouse platelet transcriptomes and proteomes for phenotyping 3474 genes with hemostatic and platelet traits.Blood vessels, thrombosis & hemostasis · 2025Article
- Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia.International journal of molecular sciences · 2025Article
- The role of genetic sequencing in the diagnostic workup for chronic immune thrombocytopenia.Blood advances · 2025Article
- Service evaluation of R90 bleeding and platelet disorders gene panel in thrombocytopenia cases.British journal of haematology · 2025Article
- An Innovative Inhibitor with a New Chemical Moiety Aimed at Biliverdin IXβ Reductase for Thrombocytopenia and Resilient against Cellular Degradation.Pharmaceutics · 2024Article
- Excessive serine from the bone marrow microenvironment impairs megakaryopoiesis and thrombopoiesis in Multiple Myeloma.Nature communications · 2023Article
- Anagrelide: A Clinically Effective cAMP Phosphodiesterase 3A Inhibitor with Molecular Glue Properties.ACS medicinal chemistry letters · 2023Article
- A family case series of inherited thrombocytopenia.Proceedings (Baylor University. Medical Center) · 2023Article
- Prevalence and natural history of variants in thePlatelets · 2022Review
- A Novel Likely Pathogenic Variant in theBalkan journal of medical genetics : BJMG · 2022Article
- COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.Prenatal diagnosis · 2022Article
- Immune competence and spleen size scale with colony status in the naked mole-rat.Open biology · 2022Article
- Novel THPO variant in hereditary thrombocytopenia: A potential candidate variant for predisposition to myeloid neoplasm.PloS one · 2022Article
- Endothelium, Platelets, and Coagulation Factors as the Three Vital Components for Diagnosing Bleeding Disorders: A Simplified Perspective with Clinical Relevance.International journal of clinical practice · 2022Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
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.
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