Advances In Treatment For Thalassemia: A Rare Genetic Blood Disorder
Research and Innovations Approximately 400 people in Canada have thalassemia major, and there’s no cure – but monthly blood transfusions and chelation therapy improve quality of life for those affected.
Thalassemia major is a rare disorder that most people have never heard of, but Pedro Quintella Oliveira, age 17, knows it all too well. His body doesn’t make normal hemoglobin required for healthy red blood cells, and the only treatment is monthly blood transfusions. That is “the worst day of the month” he says emphatically. A lifeguard, a swim instructor and fencer, his energy wanes in the week before the transfusion.
”There are negatives and positives with this disorder,” he says. Having lived with the disease since he was diagnosed at 11 months, it has helped shape the person he is today.
Living with thalassemia
"Thalassemia has given me a sense of responsibility because I had to take a needle every day and go to Sick Kids Hospital by myself every month,” says Oliveira who lives with his family in Mississauga.
"Thalassemia has given me a sense of responsibility because I had to take a needle every day and go to Sick Kids Hospital by myself every month.”
Until two weeks ago, he spent 10 hours a night, five days a week with a needle attached to his abdomen in order to reduce the iron in his body from the transfusions. Now with scientific advances, a couple of pills do the job, making his life much easier.
Thalassemia is a rare genetic disorder that causes anemia, chronic fatigue and, if not treated, abnormal growth, liver damage, heart failure, and ultimately death. The gene is carried by people of Chinese, South Asian, Middle Eastern, Mediterranean or African descent.
Relying on blood donors
”In Canada, there are only 400 patients we know of,” says Helen Ziavras, President of the Thalassemia Foundation of Canada. She is one of them.
”There’s no cure. From the minute you’re diagnosed as early as six months, it’s a life of transfusions, tests and hospital visits. You’re basically tied to an IV for life,” she says. “Thanks to the kindness of blood donors, we’re lucky to have our lives extended and live as normally as possible.”
For Oliveira, the biggest challenge is the stress the disease puts on his family. His family, who was living in England at the time he was diagnosed, moved back to their native country of Brazil when he was two-and-a-half, and there Oliveira would sometimes wait seven weeks for blood. When Oliveira was four, his father moved the family to Canada.
A good blood supply
”We couldn’t find the proper blood in Brazil,” he says. ”Canadian Blood Services does this really well. Every month there’s always blood…That’s why they’re always asking people to donate.”
Treatment has vastly improved in the last 20 years, and Oliveira says his life expectancy is better than ever. He plans to become a physicist, and his interest in science came from wanting to better understand his condition.
The biggest positive for Oliveira was meeting his best friend Cassandra at Sick Kids when he was just four years old. ”Because I’m in the hospital a lot, I really see how lucky I am to just have thalassemia and not something else.”