Often times, 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.
The mutations that cause beta-thalassemia are more common in Asia, India, the Middle East and the Mediterranean where they are found in up to 20 percent of the population. But the 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 appropriately. 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 just yet. Without data, it’s difficult to make the case for investing in programs to address the issue, which means patients struggle to find the right doctors.
Bracing for Beta-thalassemia
Many patients with beta-thalassemia require life-long regular blood transfusions and medication to reduce the levels of iron in their body. “These patients cannot produce enough mature red blood cells to transport oxygen throughout their bodies,” Cappellini said. “So transfusions are necessary for their survival.”
Understandably, beta-thalassemia treatment requires significant expertise and resources, including safe blood donations. Many countries are preparing their health care systems by improving resources for blood transfusions. “As migration throughout the world continues to change, health care systems will need to evolve rapidly to meet the needs of a more diverse population,” Cappellini said.
“I get daily emails from colleagues in other parts of Europe asking how to treat patients with beta-thalassemia,” Cappellini said. “We’re trying to make this information as accessible and comprehensive as possible.”