Improvements in care are now helping people with thalassemia live longer, healthier lives. At the Penn Comprehensive Adult Thalassemia Program, we provide uniquely specialized care for this red blood cell disorder. Whether you want a second opinion, haven’t seen an adult doctor in a while or need to transition from pediatric care, our experienced team can help.
Why Choose Penn Medicine for Thalassemia Treatment?
Adults with significant forms of thalassemia — including beta thalassemia major, beta thalassemia intermedia, hemoglobin H disease — often don’t get care in the most beneficial setting. Some don’t receive specialized care, while others go to pediatric thalassemia centers.
At Penn Medicine, we address this gap with one of the few thalassemia programs in the nation exclusively focused on adults’ unique needs. Our program provides you with access to a deeply knowledgeable team, with specialized expertise that draws people from across the nation.
We care for all forms of thalassemia and related challenges, using the comprehensive approach that research shows makes the most difference. We also have experience working with the diverse populations affected by thalassemia.
When you come to our program for care, you can expect:
- Expert medical team: Like other team members at Penn Hematology, our specialists bring a high degree of expertise. Our hematologists focus on red blood cell disorders — with particular expertise in problems with hemoglobin, the molecule tied to thalassemia. These leaders in adult thalassemia care are joined by experienced nurses and nurse practitioners. Learn more about the hematologists who care for thalassemia at Penn Medicine.
- Safe, effective transfusions: If you need transfusions, you can rely on our specialized expertise for severe, transfusion-dependent thalassemia. You can also count on a safe blood supply drawn from Penn Medicine’s world-class blood bank. Our team has extensive experience monitoring iron overload from transfusions and responding when needed. We use liver and cardiac MRI to watch for complications while providing a range of chelation therapy to remove iron.
- Other leading treatments: In addition to transfusions, we offer newer medications and other emerging treatments, including those in clinical trials for thalassemia. Other research at our program includes ways to improve quality of life for people with thalassemia.
- Access to other specialists: Thalassemia and its treatment can cause challenges that go beyond your blood. Our thalassemia doctors work with other top specialists across Penn Medicine to protect your overall health. To address complications from anemia and transfusional iron overload, for example, we partner with cardiologists, endocrinologists, hepatologists, ophthalmologists, and other specialists.
- Personal support: A nurse coordinator serves as your main contact, helping to arrange appointments and get answers to your questions. You have access to a psychologist and social workers focused on red blood cell disorders to address thalassemia’s impact on your life.
- Help moving from pediatric programs: We can help arrange smooth transitions from pediatric care to our adult program. In particular, we partner with the Thalassemia Center at The Children’s Hospital of Philadelphia. People who choose to move from CHOP to our program usually do so between the ages of 18 and 24.
- Flexibility with care: We work around your needs. We’re happy to partner with doctors closer to your home to make sure you continue receiving the best care. Many people travel to us for an initial evaluation, then return to their local providers for transfusions. After the initial visit, our nurse coordinator helps arrange annual checkups and meetings with other specialists.
Whatever Your Background, We Can Help With Thalassemia Treatment
We know you’ve likely experienced challenges along the way with thalassemia. We’ve created a safe and nonjudgmental place to receive care. We can address all your needs, helping you make necessary adjustments to live a healthy and productive life.
Examples of situations we can help with include:
- Starting families: Thalassemia can interfere with fertility. We work closely with Penn Medicine specialists in fertility care and obstetrics if you want to start a family. Because thalassemia is an inherited condition, we can also discuss family planning.
- Beginning care as an adult or resuming it: Unfortunately, the effects of thalassemia can worsen with age. If you received a diagnosis in childhood but did not need treatment at the time, we still recommend an evaluation in adulthood. In some cases, you may benefit from starting transfusions. Other adults may have undergone transfusions when they were younger but then chose not to continue. They may want to consider resuming treatment as adults. In either case, we can discuss the best options for your care and help you move forward.
- Aging with thalassemia: As people with thalassemia live longer thanks to better therapies, they often develop particular needs and concerns. We work with you to identify these challenges, providing full support and comprehensive care to help you continue to thrive.
Types of Thalassemia Treatment
We offer a full range of treatments for thalassemia and its complications, including newer options. We also provide therapies to limit and address the potential side effects of treatment, especially transfusional iron overload.
Each person we see receives a personalized treatment plan — we’re happy to review your existing treatment plan and offer a second opinion. Our recommendations depend on a number of factors, including the type of thalassemia you’ve been diagnosed with and the severity of anemia and other complications.
Alpha Thalassemia Treatment
Alpha thalassemia often causes less severe disease than beta thalassemia. More harmful forms of alpha thalassemia are addressed with some of the same treatments used for beta thalassemia. These therapies can include dietary supplements and blood transfusions paired with iron removal.
Beta Thalassemia Treatment With Blood Transfusions
Doctors commonly treat beta thalassemia with transfusions of donated blood. Unfortunately, these procedures can also introduce complications if the proper care isn’t taken. We provide extensive experience with all aspects of treatment:
- Blood transfusions: Some forms of thalassemia cause such severe anemia that people need blood transfusions on a regular basis to help them function or even protect their lives. Other people need transfusions less frequently or only for special circumstances — during pregnancies, before surgeries, or during infections. At Penn, our blood blank follows strict safeguards with donated blood. Transfusions are delivered by an experienced team, following the latest guidelines to avoid negative reactions to donor blood. Should you wish, we can also arrange transfusions closer to home.
- Iron chelation: While blood transfusions can relieve anemia, they also add iron to your body when the red blood cells eventually break down. Your body has no way to remove the extra iron, which can collect in your liver and heart, causing damage. The iron can also gather in endocrine glands such as the thyroid and pituitary, disrupting normal functions. We use a range of medications called chelators to remove unwanted iron. Your doctors work to find the right chelation drugs for you. Should you need infused therapy, Penn Medicine offers a state-of-the-art infusion center and our Penn Home Infusion Therapy.
- Alternatives to red blood cell transfusions: Our team has experience with treatments that can reduce the need for transfusions, including hydroxyurea and luspatercept. We can help you decide if these are reasonable options to consider.
Stem Cell Transplants for Thalassemia
Until recently, the only potential cure doctors could offer for thalassemia was transplanting blood-producing stem cells from a donor. The best results from these transplants have come from performing them in children who don’t have many thalassemia complications. Given these outcomes, stem cell transplants are generally not offered to adults as a treatment for thalassemia.
Beta Thalassemia and Gene Therapy
We’re excited about the potential of gene therapy — adding, deleting, or correcting genes to tweak the instructions guiding the body. The first gene therapy for thalassemia was approved in 2022. It’s intended as a one-time therapy, with the potential to increase healthy red blood cell production to normal or near-normal levels, reducing dependence on transfusions.
The approved treatment involves several steps:
- The medical team collects blood-forming stem cells from the patient.
- The team inserts a healthy copy of the defective gene responsible for beta thalassemia into the stem cells.
- The patient receives chemotherapy to destroy any remaining stem cells affected by thalassemia and make space in the bone marrow for the modified stem cells.
- The team puts the modified stem cells into the patient’s body, like a blood transfusion.
- The modified stem cells enter the bone marrow and begin making red blood cells with healthy adult hemoglobin.
At Penn, we see the unmet need that gene therapy can fulfill. We’re excited about its promise and are working towards offering gene therapy in the near future.
Responding to Complications from Thalassemia
In addition to possibly causing anemia, thalassemia and its treatment can affect the body in other ways. We partner with other Penn specialists to look for and treat thalassemia complications.
We arrange specialized MRIs to check your heart and liver for iron buildup. We also coordinate screening for endocrine complications such as diabetes, hypothyroidism, hypoparathyroidism, osteoporosis, and low testosterone. We provide support for all possible challenges.
We frequently collaborate with specialists in:
Make an Appointment
Please call 800-789-7366 or make an appointment.