Phenotypic and genotypic characterisation of inherited bleeding disorders

Inherited bleeding disorders affect many people in Australia and worldwide, with bleeding symptoms ranging from mild to severe. This thesis examines both the symptoms and genetic causes of conditions such as haemophilia A, congenital fibrinogen disorders, and von Willebrand disease. It explores how modern genetic testing helps confirm diagnoses, predict treatment responses, and guide care. Using published studies, the thesis describes the clinical features of various bleeding disorders, the importance of genetic testing using techniques that can analyse multiple genes at the same time, and the role of genetic modifiers in altering disease severity.