Evolving Needs of People with Beta Thalassemia

About 80-90 million people, or 1.5% of the global population, are carriers of the mutation that causes beta thalassemia.² Oftentimes, children inherit the gene mutation from parents who are carriers but do not show any symptoms of the disease. In this scenario, the child has a 25 percent chance of developing beta-thalassemia and a 50 percent chance of being an asymptomatic carrier like their parents.³

Many patients with beta-thalassemia require life-long, regular blood transfusions (transfusion-dependent thalassemia) and may present a range of health complications, including iron overload, which can result in damage to the heart, liver and endocrine system.^1,2,4,5 Others may not require regular transfusions for survival (non-transfusion dependent) but still face frequent and often debilitating health issues, including thrombosis, pulmonary hypertension, renal dysfunction, leg ulcers, among others.^6,4,5 

Spreading Faster Than Ever

Beta thalassemia has been found to occur most frequently in people from Mediterranean countries, the Middle East, North Africa, India, and Central and Southeast Asia.² An increase in modern migration means that cases are now cropping up more often in other regions.

Southern Mediterranean countries recognize the rise in patients with beta-thalassemia and have increased resources to meet the growing demand. While in Northern and Western Europe, health professionals and policymakers acknowledge this trend, they lack reliable data on the frequency and patterns of the disease. Without data, it’s difficult to make the case for investing in programs to address the issue, creating a challenge for patients to find the right doctors. 

Emerging Considerations with COVID-19

Beta-thalassemia treatment requires significant expertise and resources, including safe blood donations. The COVID-19 pandemic has had a significant impact on the blood supply throughout the world, creating a drop in the number of blood donations in most EU countries and particular challenges in developing and low-income countries with limited resources and high concentrations of patients with the disease.^7,8 Several factors contributed to this reduction in blood donations, including avoidance by donors and reduced capacity at donation centers, to blood processing and supply chain disruption.⁷

According to Professor Ali Taher of American University of Beirut, addressing the impact of the pandemic on the beta thalassemia patient community will require ongoing effort. “We are aware that in many regions supplies have been restored but follow up will be critical to understand the potential implications of under-transfusion in patients to inform care plans over the long-term. This past year has reinforced the importance of novel therapies that may reduce dependence on transfusions and preserve the patients’ own blood.”

Current and Future Treatment Directions

Currently, the only available cure for beta-thalassemia is a stem cell transplant, but many patients may not be eligible. Fewer than 10 percent of patients eligible for a stem cell transplant actually receive one, often due to high costs or a lack of a donor.⁹ Another long-term solution is prevention through carrier screening and education, and some countries have found success with this approach.^10,11 

In recent years, however, advances in the treatment landscape have provided much needed options to address anemia resulting from beta-thalassemia and provide patients with the possibility of becoming less dependent on red blood cell transfusions.

“As we look beyond the pandemic, we’re focused on expanding treatment strategies, including gene editing and novel agents that will increase hemoglobin and reduce transfusion need , that may address health complications and improve quality of life in patients living with anemia-related diseases,” said Professor Taher.