for fighting life-altering disease.
Healthy red blood cells are vitally important for fueling the body with the oxygen it needs to function.
Beta-thalassemia (β-thalassemia) or beta-thal, is a genetic disease characterized by anemia, a condition which results from a shortage of healthy red blood cells (RBCs). Without sufficient healthy RBCs, cells and tissues throughout the body do not get the oxygen they need to function. Anemia causes people to feel tired, weak or short of breath. In the most severe form of beta-thal, also referred to as transfusion dependent thalassemia (TDT), patients require lifelong regular red blood cell transfusions to survive. If left untreated, the disease can damage organs and potentially lead to death.
Beta-thal is caused by mutations in the β-globin (HBB) gene that result in significantly reduced or absent production of functional adult beta (β)-globin, a component of hemoglobin. Hemoglobin is a protein that enables RBCs to carry oxygen to cells and tissues throughout the body.
People with the most severe form of beta-thal live their lives tethered to the healthcare system and face serious complications.
To treat chronic anemia, the hallmark symptom of severe beta-thal, patients currently depend on regular blood transfusions—as often as every 3-4 weeks.
While chronic transfusions are critical for patients' survival, they are associated with serious challenges.
- Chronic transfusions are associated with unavoidable iron overload. This means that the treatment itself can cause serious complications – including progressive multi-organ damage and organ failure – and requires chronic treatment with chelation therapy to remove iron.
- Transfusions and iron chelation therapy only provide temporary relief, and despite intense treatment regimens patients may still experience a wide range of symptoms, including fatigue and weakness to heart failure, diabetes or organ malfunction.
Additional treatment options are also chronic and still require regular transfusion and chelation.
Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the only potentially curative option that is currently available for TDT, but it has serious limitations. It is recommended only for younger patients, and its use is limited by a need for matched donors as well as risks of severe complications such as transplant-related mortality, graft rejection, and graft-versus-host disease.
Despite the significant treatment burden, the condition isn't widely known. As a rare disease, it affects approximately 1,300 people in the U.S.
It is estimated that approximately 1,300 people in the U.S. live with the most severe form of beta-thal, however the exact prevalence is not known. The disease is most common among individuals of Mediterranean, South Asian, and Middle Eastern descent.
Symptoms of severe anemia manifest early in life and most people with the severe form of beta-thal – those who rely on regular blood transfusions – are typically diagnosed in childhood.
Initially, beta-thal is diagnosed through an examination of the blood, including a complete blood count and specific hemoglobin analysis.
Find out more
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