Identifying the genes that cause inherited thrombocytopenia

Molecular genetic investigation of patients with congenital thrombocytopenias

Inherited thrombocytopenias are a group of disorders characterised by a low platelet count. People with this condition have abnormal bleeding ranging from mild to severe. Platelets are small particles in the blood that help blood to clot after an injury to prevent excessive bleeding. Patients with fewer platelets in their blood are referred to as having thrombocytopenia, and may be at risk of excessive bleeding. Targeting platelets with medications that reduce their ability to stick to each other stops blood clots forming and reduces the chance of deadly heart attacks and strokes. Dr Neil Morgan and colleagues, including BHF Professor Steve Watson, have been awarded a grant to search for and identify faults in genes that cause inherited forms of thrombocytopenia. They will study how platelets in these patients work compared to healthy people, and assess the function of the genes identified. This research will reveal the causes of these disorders and will provide information on how platelets are controlled. Ultimately, it may help doctors diagnose the condition earlier and may reveal new ways to treat people with thrombocytopenias.