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beta-thalassemia (beta-thal)

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.

This translates to a significant portion of their lives dedicated to managing this disease. The burden can be staggering: individuals with beta-thal who require regular transfusions spend ​an average of 9.8 hours, every 3-4 weeks in a hospital to receive the blood transfusions necessary for survival.

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.

Meet Priyanka, living with beta-thalassemia

Her ever-present smile and positive attitude would make it difficult to believe that Priyanka is a young adult living with a debilitating lifelong disease. From completing college, to working full-time as a nanny, Priyanka is a beta-thalassemia advocacy champion who has made it a goal to help children and young adults learn about living full lives despite the many challenges the disease poses.

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.

Meet the Barons, a family living with beta-thalassemia

With three young girls living with beta-thalassemia, the Barons are an example of how love and unwavering support can make the day-to-day life of managing this disease less burdensome.

Initially, beta-thal is diagnosed through an examination of the blood, including a complete blood count and specific hemoglobin analysis.

Find out more

You can find more information about beta-thal by visiting patient resources.
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