Catalog
Hereditary thrombocytopenia
Link to WHO Definition
Hereditary thrombocytopenia – http://id.who.int/icd/entity/827950289
A disease caused by a genetically inherited mutation leading to decreased platelet count. This disease is characterised by decreased levels of platelets within the blood. This disease may present with increased bruising or haemorrhaging. Confirmation is by identification of decreased platelet count in a blood sample.
Parents
Children
- MYH9 macrothrombocytopenia syndromes
- Familial platelet syndrome with predisposition to acute myelogenous leukaemia
- Paris-Trousseau thrombocytopenia
- Radio-ulnar synostosis - amegakaryocytic thrombocytopenia
- Macrothrombocytopenia with mitral valve insufficiency
- Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency
- Thrombocytopaenia - absent radius
- Congenital amegakaryocytic thrombocytopenia