Ye Jee Shim
Inherited platelet disorders (IPDs), which manifest as primary hemostasis defects, often underlie abnormal bleeding and a family history of thrombocytopenia, bone marrow failure, hematologic malignancies, undefined mucocutaneous bleeding disorder, or congenital bony defects. A wide heterogeneity in IPD types, in regard to the presence or absence of thrombocytopenia, platelet dysfunction, bone marrow failure, and dysmegakaryopoiesis, is observed in patients. The individual processes involved in platelet production and hemostasis are genetically controlled: to date, mutations more than 50 genes involved in various steps of platelet biogenesis have been implicated in IPDs...
August 22, 2019: Korean Journal of Pediatrics