Thalassemia and Haemophilia

The Thalassaemia and Haemophilia Molecular Reference Laboratory (THMRL) is the Victorian reference laboratory for molecular testing of thalassaemia, haemoglobinopathies, and haemophilia A and B. The laboratory also offers prenatal testing for these disorders.

THMRL is constantly working towards improving test efficiency through the evaluation of novel techniques, data processing software and instrumentation. The development and implementation of alternative diagnostic approaches including next generation sequencing are the focus of the laboratory’s current interests.

The laboratory has an in-built capability to continuously contribute to new knowledge in the field of thalassaemia, haemophilia and haemochromatosis; which will ultimately lead to enhanced patient care. The laboratory’s translational research interests focus on the relationship between genetic complexity and phenotype of the thalassemias. The laboratory has initiated a “Summer/Winter Research Experience program” for students to develop an organised process to evaluate, assess and seek improvements in health service delivery.