Nearly three years ago, Julie gave birth to a beautiful baby girl – it was her second child.

The joy of the moment quickly vanished when her paediatrician handed her the news, “Your daughter has inherited a life-threatening blood disorder – thalassaemia major, a chronic condition that results in severe anaemia.”

“My daughter has inherited a disorder. This is something I never thought I’d have to say. Something no parent ever wants to hear,” said Julie.
Layla was born healthy. However, a few months after birth Layla’s body started to produce very low levels of haemoglobin, the oxygen carrying protein in red blood cells. Layla started to feel lethargic – the first symptoms of thalassaemia. Layla inherited the broken gene, responsible for haemoglobin production from both parents causing a shortage of red blood cells and severe anaemia.

“I really had no idea about thalassaemia but now I know more about this condition than most. I’ve quizzed experts, gone to meetings and have read many scientific papers. I’ve now started to share my experience with other parents, telling my story in the hope of helping others like myself who are thinking of starting a family,” says Julie.

Dr Sant-Rayn Pasricha at the Monash Medical Centre said: “The most common treatment is blood transfusions every two to four weeks for life. However, this life-saving therapy is not without its own risks. Since blood is rich in iron, iron overload is an inevitable and serious complication in long-term blood transfused patients. While iron is necessary for the body, too much iron is toxic and needs to be removed using drugs called iron chelators. This therapy is essential to reduce the risk of serious complications such as heart and liver failure.

“We treat over 170 patients at Monash Medical Centre. Our patient group is one of the biggest recipient groups of blood in the country, with about 2000 litres of blood required each year to keep them alive. That’s close to 8,000 blood donations annually. While bone marrow or cord blood transplantation can cure this condition, finding a compatible donor, even among relatives is very rare,” he says.

In Australia, thalassaemia occurs most often among people of southern Mediterranean ancestry particularly among the Cypriot, Greek, Maltese, and Italians. However, it is also found among people of middle Eastern (Lebanese, Turkish) and Asian background (Indian, Sri Lankan, Burmese, Cambodian, Chinese, Malaysian, Thai and Vietnamese), which represent a large number of new and recent immigrants arriving into Australia.

“Although it may be more prevalent to these communities, it does not mean that a person who has a northern European or Australian background will not be a carrier of the condition. We’re not sure how many Australians are carriers of thalassaemia, but according to several international reports, in some regions one in every 10 to 15 people may carry the affected gene, even more in some parts of Asia – it’s one of the most prevalent inherited conditions in the world,” says Dr Pasricha. “But testing is simple – just a blood test your GP can order. We recommend that all couples discuss their risk of carrying a thalassaemia gene with their doctor and consider testing even before they become pregnant.”

Layla is one of over 100,000 affected children born worldwide each year. Unfortunately, many children do not have access to regular blood transfusion and do not survive beyond their second or third birthday. Several countries in southern Europe and the Middle East, have taken drastic measures to reduce the number of affected births by introducing mandatory premarital genetic screening as a way of increasing awareness among newlyweds. Julie says, “It is a controversial approach and unlikely to be adopted in Australia but it has proven to be very powerful at reducing the number of affected births.

“If my husband and I knew we where both carriers of thalassaemia we would have considered IVF to start our family. Knowing what I know now, I think it is important for all people planning to have a family, be carrier tested,” says Julie.
While Layla’s parents wait for a cure to become available, they are ecstatic at the news that gene therapy has successfully treated one thalassaemia patient in Paris.

The gene therapy trial, led by Prof Philippe Leboulch, took place over five years ago. This procedure involved the removal of blood stem cells from the patient, followed by the introduction of a working gene into stem cells, before being returned back into the patient. This patient has not required a blood transfusion for over four years.
The report that gene therapy has treated one thalassaemia patient is exciting news and many more clinical trials are being planned around the world,” says Dr Jim Vadolas at the Murdoch Childrens Research Institute. “Scientists have been working to try to fix disorders like thalassaemia by gene therapy for over three decades. The major challenge is to avoid inappropriate interaction of the curative gene with the patient’s own DNA.

“The concern centres on the very small chance that the curative gene may disrupt the function of other essential genes and potentially lead to cancer. We have been aware of this dilemma for some time and have been developing a complementary strategy, whereby we can control precisely where the curative gene is inserted into the patient’s DNA. We are very excited by our results and hope to apply it to thalassaemia patient’s stem cells in the near future,” says Dr Vadolas.
Meanwhile, Julie anxiously waits and keeps her fingers crossed that one day her daughter can be cured from thalassaemia.

“As a parent of a child with thalassaemia, I’ve become an advocate for medical research. Rather than hiding from the genetics, I’m using the opportunity to be a social activist, working to raise awareness and maybe raise money for genetic disorders affecting family and friends – I hope one day to either be rich, famous or influential so I can make a difference,” says Julie.

Tuesday 8 May marks International Thalassaemia Awareness Day, dedicated to raising awareness about the medical and social impacts of common inherited blood disorders such as thalassaemia and sickle cell anaemia. Thalassaemia Australia will run an all-day awareness campaign to promote communication, education and research in thalassaemia and encourage interaction between our diverse ethnic groups and medical staff at the Monash Medical Centre in Clayton. For more information call Thalassaemia Australia on (02) 9888 2211 or visit thalassaemia.org.au.