July 12th 2021: Beta-thalassemia is an inherited condition caused by mutations in a gene involved in the production of a component of haemoglobin, the protein that transports oxygen throughout the body. These mutations either prohibit or limit haemoglobin formation, resulting in a scarcity of mature red blood cells and persistent anaemia, as well as iron excess.
The mutation that causes beta thalassemia affects about 80-90 million people worldwide, or about 1.5 percent of the population.
Children frequently inherit the gene mutation from parents who are carriers but show no signs of the condition. The child has a 25% probability of acquiring beta-thalassemia and a 50% chance of being an asymptomatic carrier like their parents in this circumstance.
Many individuals with beta-thalassemia need regular blood transfusions for the rest of their lives (transfusion-dependent thalassemia), which can cause a variety of health problems, including iron excess, which can harm the heart, liver, and endocrine system.
Others may not require regular transfusions for survival (non-transfusion dependent), but they nevertheless suffer from thrombosis, pulmonary hypertension, renal failure, and leg ulcers, among other health problems.
Beta thalassemia is spreading faster than ever
People from the Mediterranean, the Middle East, North Africa, India, and Central and Southeast Asia have been reported to have the highest prevalence of beta thalassemia. As a result of the rise in modern migration, instances are increasingly sprouting up in more places.
The countries in the southern Mediterranean have boosted resources to address the growing demand for beta-thalassemia patients. While health experts and politicians in Northern and Western Europe recognise this trend, they lack solid data on the disease’s occurrence and patterns. It’s tough to make the case for investing in initiatives to solve the problem without data, making it harder for patients to identify the correct providers.
Beta-thalassemia & COVID-19
Treatment for beta-thalassemia necessitates a large amount of knowledge and resources, including safe blood donations. The COVID-19 pandemic has had a substantial influence on the global blood supply, resulting in a decline in blood donations in most EU countries and unique issues in emerging and low-income countries with limited resources and high concentrations of illness patients. Donor avoidance and limited capacity at donation sites, as well as blood processing and supply chain interruption, all contributed to the drop in blood donations.
Newer treatment regimes for beta-thalassemia
The only solution for beta-thalassemia now available is a stem cell transplant, although many individuals may not be eligible. Only around 10% of patients who are eligible for a stem cell transplant actually get one, owing to exorbitant expenses or a lack of a donor. Another long-term strategy is prevention through carrier screening and education, which has proven to be effective in several countries.
However, recent advancements in the treatment landscape have provided much-needed choices for addressing anaemia caused by beta-thalassemia and allowing patients to become less reliant on red blood cell transfusions.
