Inherited thrombocytopenias: history, advances and perspectives.

Haematologica
Alan T Nurden, Paquita Nurden

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 lin...Continue Reading

Citations

Oct 18, 2020·International Journal of Molecular Sciences·Emma C JosefssonChloe James
Feb 6, 2021·Journal of Clinical Medicine·Loredana BuryPaolo Gresele
Feb 12, 2021·Small GTPases·William VainchenkerHana Raslova
May 1, 2021·International Journal of Molecular Sciences·José María BastidaMaría Luisa Lozano
May 1, 2021·International Journal of Molecular Sciences·Verónica Palma-BarquerosJosé Rivera
Aug 15, 2021·Hämostaseologie·Carlo ZaninettiAndreas Greinacher
Aug 16, 2021·Hematology/oncology Clinics of North America·Frederick D Tsai, Elisabeth M Battinelli
Sep 4, 2021·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Nanna BrønsSisse R Ostrowski
Sep 14, 2021·Blood Advances·Verónica Palma-BarquerosJosé Rivera
Sep 19, 2021·British Journal of Haematology·Marieke C PuntUNKNOWN Thrombocytopathy in the Netherlands (TiN) Study Group

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Methods Mentioned

BETA
genotyping
exome sequencing
GTPase
confocal microscopy
glycosylation
biopsies

Software Mentioned

Romiplostim
BRIDGE

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