Thalassaemia: One man's journey with rare blood disorder

When Dimitri Azzopardi was born in Cardiff 43 years ago, his family had no idea what was in store for him.  

At the age of two he was diagnosed with thalassaemia, a rare genetic disorder where the body doesn’t produce enough haemoglobin which is used by red blood cells to carry oxygen around the body.  

The condition made Dimitri chronically anaemic and requiring constant blood transfusions. He said thalassaemia has affected every part of his life, from his physical health, to his mental wellbeing, to his decision not to have children.  

“Between the ages of six months and two years old, my mum used to take me to the GP every weekend as she knew something wasn’t right,” he recalled. “I couldn’t walk up the stairs, I didn't eat, and I just slept all the time. It couldn't do anything.”  

Thalassaemia mainly affects people of Mediterranean, south Asian, southeast Asian and Middle Eastern origin. In severe cases it can cause disfigurement. Dimitri, whose family are from Greece, said he was eventually diagnosed with the condition when his haemoglobin levels were so low that he was “close to dying”.  

“I had five bags [of blood] every four weeks when I was a child, and this was the 80s when nothing was filtered. Then to counteract the iron in the blood, I used to have subcutaneous injections in my stomach and arm which was left in 24 hours a day, seven days a week.   

“My mum was 20 when she had me, so she was still very young and she didn't know what hit her. It definitely took it out on my family.”  

When Dimitri’s mum and dad got married in Corfu, he said they had a blood test to check if they had the trait for thalassaemia. It came back negative, so they decided to have a baby.  

“Low and behold they actually did have the trait - and it was passed onto me,” he added.  

Dimitri had his thalassaemia treatment in his childhood years with the charity Latch at University Hospital Llandough before moving under the care of the University Hospital of Wales when he was 21. At this time, he had to have his spleen removed as a result of his constant transfusions.  

The Barry resident is now on 36 tablets a day, has frequent transfusions and has had to give up some of his hobbies – including roller hockey and ice hockey – as his body can no longer take it.  

But he said he hasn’t let his condition define him. “My mother always said you’ve just got to get on with it and live with it,” he said. “If you take your medication and do your treatment, thalassaemia can be in the background.”  

Dimitri said the next generation of thalassaemia patients in south Wales will have things a little easier. A support group now exists in south Wales for the handful of known people with the condition, and there is also a specialist centre for thalassemia and sickle cell patients in Cardiff Bay.   

Dimitri, who works in the haematology department at Cardiff and Vale University Health Board, added: “I get on very well with the doctors and nurses in Cardiff - they are a great team and very dedicated. I appreciate everything they do to keep me as fit as I can be.  

“Of course, it helps that thalassaemia treatment has improved greatly over the years; oral chelating medicines have made life so much easier and transfusions are quicker and easier than they used to be. In fact, I have a great deal more than that for which to thank my mum. She was always very encouraging when I was young.”  

On Thursday, June 22 from 11am to 7pm, a stall is being set up on the lower floor of St David’s Shopping Centre where people can be tested for sickle cell and thalassaemia. People who are found to be carriers of the trait can then make an informed choice about whether to have children, who would carry a one-in-four chance of having thalassaemia if both their parents are carriers.  

“I chose not to be a dad because I wouldn’t want my child to go through what I’ve been through,” added Dimitri, who now has three bags of blood every three weeks, along with mental health support and physiotherapy. “It’s so important for people to get tested. Many people don’t know their heritage.  

“The more ethnic diversity we have in our communities, the more chance there is of people having thalassaemia.” 

He added: “I’d like to say a massive ‘thank you’ to my mum, Sonia Azzopardi and sister Sofia Hillman. If it wasn’t for them I wouldn’t be here.” 

Dr Indu Thakur, Consultant Paediatric Haematologist and lead for red blood cell disorders at the Noah’s Ark’s Children’s Hospital for Wales in Cardiff, said: “National Pathology Week starts on Monday, June 19 with the theme ‘Pathologists and Patients’. To live up to this spirit, the Hereditary Anaemia Service - that looks after Dmitri - has organised a Screening Day at St David's Shopping Centre in Cardiff.  

“The multidisciplinary team consisting of specialist doctors, nurses, genetic counsellors and laboratory staff will be available on the lower floor to raise awareness and answer questions about inherited blood disorders. For people who choose to get themselves tested, facility has been made to do blood tests on the upper floor on the same day. Supporting information leaflets will be available.” 

For more information on National Pathology Week please go here. For more information on the UK Thalassaemia Society please go here.