New treatments are needed to reduce the need for transfusions
May 6, 2016
For the past 50 years, Louis Pericleous, who lives in Cyprus, has been in and out of the hospital nearly every week to receive life-saving blood transfusions. He is one of hundreds of thousands of people worldwide living with beta-thalassemia, a genetic disorder that causes profound anemia, in which the body does not make enough red blood cells to carry oxygen to support the body. Even with blood transfusions, patients may develop hypothyroidism, diabetes, lung problems and cancer as a result of their disease and the transfusions used to treat it. Beta-thalassemia can lead to an early death for some patients, and there is a clear need for new therapies.
There is no approved drug to treat the anemia of beta-thalassemia. The only cure for beta-thalassemia is a bone marrow transplant, but finding a match is typically limited to a small percentage of patients. So most patients live like Pericleous—relying on transfusions, typically every two to four weeks, which provide healthy red blood cells from a donor, and constantly keeping a close eye on their health.
“We really depend on the kindness and love of other humans,” Pericleous, a former Board Member of Thalassaemia International Federation and former President of the Cyprus Thalassaemia Association, said. “If people didn’t donate their blood, we couldn’t survive.”
Without treatment, affected individuals may die early due to diseases such as heart failure. And while regular transfusions lengthen lifespan and ease some symptoms, the constant blood transfusions can cause iron overload (too much iron in the body), which can lead to heart and liver problems and hormone imbalances unless patients also take iron-chelation therapy.
In developing countries, the standard of care is often sub-optimal. In lower socio-economic regions, fewer people donate blood, and the donations that are made are often not thoroughly screened for infectious diseases such as HIV and hepatitis or antigens that prod the recipient’s immune system to attack the new red blood cells.
“It’s amazing that in this day and age people cannot access or afford quality treatments,” Pericleous said. “In areas other than the United States, Canada and Europe, thalassemia remains a deadly disease.”
Physicians who have little experience with thalassemia may also give subpar treatment, raising the risk for complications. “To protect patients from iron overload, doctors sometimes don’t transfuse as often enough,” Thomas Coates, a hematologist at the Children’s Hospital of Los Angeles, said. “Inadequate transfusion increases the risk of certain complications of thalassemia and results in chronic fatigue.” Beyond fatigue, under-treatment of anemia can hinder growth and even lead to heart failure.
Beta thalassemia also affects patients on a psychological and social level, according to a 2014 study. For instance, patients may be of short stature or have bone deformities or impaired fertility—all of which could affect how they think of themselves and how they think others see them.
For Pericleous and others like him, improving their lives means freeing them from the constraints and complications of transfusions. “It would be ideal to find a substitute such as a pill or a tablet instead of a blood transfusion,” Pericleous said. “But managing this disease without blood transfusions and iron chelation remains a dream for most of us.” Now it’s up to researchers and clinicians to help them achieve that dream.
To do their part, Celgene and Acceleron have initiated a global clinical study for patients with beta-thalassemia. More information about this study as well as others in beta-thalassemia can be found at ClinicalTrials.gov.