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However, the number of known inherited thrombocytopaenias greatly increased in recent years, and careful evaluation of hundreds of patients affected by these \u2018new\u2019 disorders revealed that most of them are at risk of developing additional life\u2010threatening disorders during childhood or adult life. These additional disorders are usually more serious and dangerous than low platelet count. For instance, it is known that mutations in <jats:italic><jats:styled-content style=\"fixed-case\">RUNX<\/jats:styled-content>1<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">ANKRD<\/jats:styled-content>26<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">ETV<\/jats:styled-content>6<\/jats:italic> cause congenital thrombocytopaenia, but we now know that they also predispose to haematological malignancies. Similarly, <jats:italic><jats:styled-content style=\"fixed-case\">MYH<\/jats:styled-content>9<\/jats:italic> mutations result in congenital thrombocytopaenia and increase the risk of developing kidney failure, cataracts and hearing loss at a later stage, while <jats:italic><jats:styled-content style=\"fixed-case\">MPL<\/jats:styled-content><\/jats:italic> mutations cause a congenital thrombocytopaenia that almost always evolves into deadly bone marrow failure. Thus, identification of patients with these disorders is essential for evaluation of their prognosis, enabling effective genetic counselling, personalizing follow\u2010up and giving appropriate treatments in case of development of additional diseases. Careful clinical evaluation and peripheral blood film examination are extremely useful tools in guiding the diagnostic process and identifying the candidate genes to be sequenced.<\/jats:p>","DOI":"10.1111\/hae.13255","type":"journal-article","created":{"date-parts":[[2017,6,8]],"date-time":"2017-06-08T14:12:55Z","timestamp":1496931175000},"page":"673-681","source":"Crossref","is-referenced-by-count":29,"title":["Bleeding is not the main clinical issue in many patients with inherited thrombocytopaenias"],"prefix":"10.1111","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2638-4308","authenticated-orcid":false,"given":"F.","family":"Melazzini","sequence":"first","affiliation":[{"name":"IRCCS Policlinico San Matteo Foundation and University of Pavia Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Zaninetti","sequence":"additional","affiliation":[{"name":"IRCCS Policlinico San Matteo Foundation and University of Pavia Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. 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