ReviewHaematologica2020
Inherited thrombocytopenias: history, advances and perspectives.
Review in Haematologica, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 78 citations in OpenAlex.
- Can machine learning identify inherited causes of thrombocytopenia? A feasibility study.British journal of haematology · 2026Article
- Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience.International journal of laboratory hematology · 2026Article
- Strategies for in-depth and simultaneous analysis of N- and O-glycoproteome of platelets uncovering sex-specific signatures of human platelets.Analytical and bioanalytical chemistry · 2026Article
- Article
- Assessing bleeding risk by thromboelastography when automated platelet count fails due to giant platelets.Blood vessels, thrombosis & hemostasis · 2026Article
- [The application of thrombopoietin receptor agonists in the treatment of non-muscle myosin heavy chain 9-related disease].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2026Review
- The Molecular Pathology of Non-Malignant Haematological Disease.British journal of biomedical science · 2026Review
- Refractory ITP: revisiting definitions, diagnostics, and management paradigms.Hematology. American Society of Hematology. Education Program · 2025Review
- Characterization of Novel Variants inBiomolecules · 2025Article
- Molecular Pathogenesis of Inherited Platelet Dysfunction.Biomolecules · 2025Review
- Insights into the clinical, platelet and genetic landscape of inherited thrombocytopenia with malignancy risk.British journal of haematology · 2025Article
- Diagnosis of Inherited Platelet Disorders: Clinical Evaluation and Functional and Molecular Assays.Biomolecules · 2025Review
- Article
- Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders.Research and practice in thrombosis and haemostasis · 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
- Review
- Characterization of all small RNAs in and comparisons across cultured megakaryocytes and platelets of healthy individuals and COVID-19 patients.Journal of thrombosis and haemostasis : JTH · 2023Article
- Lentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C.Molecular therapy. Nucleic acids · 2023Article
- Comprehensive analysis of platelet glycoprotein Ibα ectodomain glycosylation.Journal of thrombosis and haemostasis : JTH · 2023Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Over the last 100 years the role of platelets in hemostatic events and their production by megakaryocytes have gradually been defined. Progressively, thrombocytopenia was recognized as a cause of bleeding, first through an acquired immune disorder; then, since 1948, when Bernard-Soulier syndrome was first described, inherited thrombocytopenia became a fascinating example of Mendelian disease. The platelet count is often severely decreased and platelet size variable; associated platelet function defects frequently aggravate bleeding. Macrothrombocytopenia with variable proportions of enlarged platelets is common. The number of circulating platelets will depend on platelet production, consumption and lifespan. The bulk of macrothrombocytopenias arise from defects in megakaryopoiesis with causal variants in transcription factor genes giving rise to altered stem cell differentiation and changes in early megakaryocyte development and maturation. Genes encoding surface receptors, cytoskeletal and signaling proteins also feature prominently and Sanger sequencing associated with careful phenotyping has allowed their early classification. It quickly became apparent that many inherited thrombocytopenias are syndromic while others are linked to an increased risk of hematologic malignancies. In the last decade, the application of next-generation sequencing, including whole exome sequencing, and the use of gene platforms for rapid testing have greatly accelerated the discovery of causal genes and extended the list of variants in more common disorders. Genes linked to an increased platelet turnover and apoptosis have also been identified. The current challenges are now to use next-generation sequencing in first-step screening and to define bleeding risk and treatment better.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.