How I Learned About Beta-thalassemia

While awareness and access to treatment have improved for beta-thalassemia patients, challenges remain.

When Ahmet Varoğlu was diagnosed with beta-thalassemia at the age of four, his family knew nothing about the disease. But they would soon learn that it is a rare, inherited blood disorder for which there is no cure. Now 49, Varoğlu serves as President of the North Cyprus Thalassaemia Society and Vice President of the Evrensel Hasta Haklari Derneği (Universal Patient Rights Association) in Northern Cyprus. He is dedicated to sharing his story to help improve understanding and increase patient access to disease education and other resources. This International Thalassemia Day (May 8), Varoğlu reflects on his experience and the challenges still facing patients today.

Beta-thalassemia is caused by a genetic defect in the production of hemoglobin, a protein that carries oxygen to red blood cells throughout the body. The defect leads to fewer and abnormal red blood cells, which can cause chronic anemia. The treatment of anemia often requires frequent blood transfusions, which are associated with serious health risks such as iron overload and diabetes.

The years following his initial diagnosis were difficult. “No one knew how to treat the disease,” he said. “There were no medications or specialized doctors. We didn’t even have a hospital to go to for treatment.”

As a result, Varoğlu and his family had to search for answers on their own after his diagnosis. Not until the 1970s were pilot programs launched in Cyprus to drive public awareness, education and prevention efforts. Patients in Northern Cyprus also banded together with family members caring for those impacted by the disease to form a local thalassemia patient society. According to Varoğlu, since its development in 1978, the society has been instrumental in helping patients make informed treatment decisions, providing access to healthcare professionals and educating physicians about beta-thalassemia.

Today, national education and prevention programs for beta-thalassemia can be found in several countries, including Cyprus, as well as Greece, Iran, Thailand and the UK. These programs provide information about risk factors, offer detection services to identify carriers and implement measures to reduce the spread of disease. Local organizations together with larger advocacy groups, such as the Thalassemia International Federation, are also helping to improve disease awareness and patient care. However, more needs to be done.

Current treatment approaches help to mitigate symptoms but do little to target the cause of the disease. With numerous doctors’ appointments and a need for ongoing blood transfusions, treatment requires a significant time commitment and can be costly. In addition, life-altering complications such as heart disease, bone and liver abnormalities and growth deficiencies often accompany beta-thalassemia. Patients and their loved ones have to accept that the disease will require life-long management.

Varoğlu has come to terms with the fact that beta-thalassemia will forever be a part of his life, but he’s hopeful that research efforts will improve care in the future.

“I can’t say that we are in a bad position. There have been many improvements within the past few years. But there is still no cure,” Varoğlu said. “Being informed, sharing resources and asking questions are critical for improving the future of patient care. Thankfully, research is ongoing.”

Watch this video to learn more Ahmet Varoğu’s story and hear his hope for future beta-thalassemia patients.