The diagnosis and treatment of patients with bleeding disorders is supported by clinical scientists.

The Haemostasis Molecular Diagnostic (HMD) laboratory at the National Coagulation Centre (NCC) in St. James’s Hospital Dublin, has been providing a national molecular genetics service for families with inherited bleeding disorders since 2004. The laboratory was established soon after the opening of the NCC (2001) as part of the response to the Lyndsey tribunal, to enable the safe treatment of haemophilia patients. The laboratory provides a large repertoire of tests to clinicians nationwide for both adults and children, identifying variants associated with inherited coagulation factor deficiencies that result in haemophilia and allied disorders. Central to the service is the provision of carrier testing for females where there is a family history of a bleeding disorder. This enables pre-natal molecular genetic testing when appropriate, and effective management of pregnancy, delivery and the neonatal period. Reliable and quick access to coagulation factor levels and molecular diagnosis is critical in managing pregnancy in women with a family history of Haemophilia. Knowledge of carrier status has been shown to reduce the chances that an infant with haemophilia suffers bleeding at birth and some mothers who are carriers also need factor treatment to prevent postpartum haemorrhage. In addition, better understanding of the molecular genetics in an individual patient when combined with knowledge of factor levels, allows the clinical team to fine-tune the treatment needed for every person with Haemophilia and allied bleeding disorders. As such, the HMD laboratory works closely with the National Coagulation Laboratory (NCL) as part of the multidisciplinary diagnostic approach to care at the NCC. Clinical Scientists at the HMD laboratory also provide interpretation of gene variants and their potential effects, and recommend further testing and review of diagnosis when required.