thrombocythaemia type 1
thrombocythaemia type 1
A myeloproliferative disorder (OMIM:187950) characterised by increased platelets due to sustained proliferation of megakaryocytes, often leading to thrombosis and haemorrhage.Molecular pathology
Caused by defects of THPO, which encodes thrombopoietin, a humoral growth factor required for megakaryocyte proliferation and maturation.