Genetics of familial forms of thrombocytopenia

摘要: The joint application of clinical and genetic investigation to patients with inherited thrombocytopenias, as well the availability new methods for studying megakaryopoiesis, has greatly expanded knowledge these disorders in last few years regard their etiology, pathogenesis aspects. In particular, diseases have been described, deriving from mutations genes FLNA, TUBB1, ITGA2/ITGB3, ANKRD26, CYCS, ABCG5 or ABCG8. Moreover, forms previously considered separate entities were found be different aspects a single disease. For instance, identification MYH9 gene whose cause May–Hegglin anomaly led recognition that Sebastian platelet syndrome, Epstein Fechtner syndrome derive same describe overlapping disorders. Despite advances, hereditary thrombocytopenias is still far satisfactory because approximately half it not possible formulate definite diagnosis illnesses yet described. this review, we provide systematic description know them today, giving special attention