Understanding Blood Helps Manage Life Long Disease
4 May 2006
Research at the University of Sydney is unlocking the mysteries behind a rare but debilitating blood disease.
The blood disorder, Beta-Thalassemia, commonly knows as Thalassemia, is passed on by parents carrying mutated blood cells to their newborn baby and requires regular blood transfusions and invasive iron removal therapies.
“People with Beta-Thalassemia require transfusions and iron removal treatments to protect their bodies against excessive amounts of iron that can lead to liver and bowel diseases,” explained Dr Joel Mackay, Senior Research Fellow at the University of Sydney’s School of Molecular and Microbial Biosciences.
Dr Mackay is leading the world in research to better understand the components of the human blood system with the aim to developing innovative treatments for genetic blood disorders.
“People with Thalassemia have a reduction in effective haemoglobin in their bloodstream that causes life long symptoms including anaemia, slow and abnormal growth development, irritability and progressive paleness,” Dr Mackay said.
“My current research has analysed the framework of haemoglobin and the roles that particular cells play in the haemoglobin structure. This research has led to the discovery that healthy haemoglobin has a ‘protein chaperone’ called ASHP that protects against excessive iron production, which is the major cause of symptoms in Thalassemia patients.”
“This breakthrough suggests that the use of ASHP gene therapy could be a potential treatment for Thalassemia that is less invasive than current therapies.”
Dr Mackay is confident the discovery will lead to spin off benefits including more effective blood storage systems to assist with chronic blood donor shortages.
Dr Mackay’s research has been recognised this week at the Australian Academy of Science Science at the Shine Dome event in Canberra. Dr Mackay was awarded the Gottschalk Medal for outstanding research in the field of medical sciences.
Contact: Andrew Potter
Phone: 02 9351 4514