Hereditary thrombocytopenia is a heterogeneous group of rare diseases characterized by a low number of platelets in the blood.
The clinical spectrum ranges from a randomly detected asymptomatic thrombocytopenia to severe thrombocytopenia with life-threatening bleeding, from isolated thrombocytopenia to syndromal diseases involving various organ systems. A number of different genetic defects have been identified in recent years, but the genetic causes of many thrombocytopenias remain unknown.
For some years we have been running a nationwide register for patients suffering from a rare hereditary thrombocytopenia. We carry out various laboratory analyses to narrow down the diagnosis of thrombocytopenia. Please contact us for more information.