Beta-thalassemia is a blood disorder, with more than 60,000 infants born worldwide with the disease each year. However, unless you live in Asia, India, the Middle East or the Mediterranean where beta-thalassemia is most prevalent, you may never have heard of this inherited blood disorder that disrupts the body’s ability to make hemoglobin.
But that may be changing as doctors in Europe and North America are increasingly encountering patients with beta-thalassemia. “We’re only now starting to deal with it, and there is a lot of work that needs to be done,” explained Dr. Maria Domenica Cappellini, a hematologist at the University of Milan in Italy, whose research focuses on the disease.
As hematologists gather for this year’s American Society of Hematology Annual Meeting in San Diego, Cappellini and other experts are sounding the alarm about the expanding prevalence of beta-thalassemia so that physicians and health systems everywhere can better prepare for an increasing number of patients with this genetic disorder.
Spreading Faster Than Ever
Beta-thalassemia is an inherited disease caused by mutations in a gene required for making a component of hemoglobin – a protein that carries oxygen in the blood. Those mutations either prevent or reduce the production of hemoglobin, which can cause a shortage of mature red blood cells and lead to anemia.
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.”
Beta-thalassemia is something that hematologists in North America and Europe need to get up to speed on and quickly.
Longer Term Solutions
We’re still a long way from being able to correct or erase the mutation that causes beta-thalassemia. Currently, the only available cure 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.
Meanwhile, researchers are constantly looking at other ways to improve treatment options and patients’ quality of life, including therapies that could reduce the need for red blood cell transfusions. Transfusion frequencies vary based on patient needs, sometimes requiring them to spend hours receiving treatment every couple of weeks.
Another long-term solution is prevention through carrier screening and education, and some countries have found success with this approach. For instance, Cyprus, Italy and Greece enacted mandatory premarital screening and genetic counselling in the 1970s and have subsequently achieved almost a 100 percent reduction in at-risk births.
Without mandatory screenings, health care systems rely on education to reduce the incidence of beta-thalassemia. “If we don’t educate more populations about how this disease is transmitted, we will continue to see an increasing number of carriers and an expanding prevalence of beta-thalassemia around the world,” said Cappellini. “Beta-thalassemia is something that hematologists in North America and Europe need to get up to speed on, and quickly.”
To learn more about beta-thalassemia, read “The Need for Safe Blood Donations for Beta-thalassemia Patients.”