PART OF LIVING WITH THALASSEMIA IS UNDERSTANDING ITS COMPLICATIONS

The more you know about thalassemia, the better you can advocate for yourself

No matter whether you have alpha-thalassemia or beta-thalassemia, and no matter what other terms you and your healthcare providers use, thalassemia can damage your organs and lead to other complications.

"Some symptoms like shortness of breath and bone pain are easy to see, but there are ones that are less visible. My spleen was enlarged so I had it removed, my gallbladder failed, I have osteoporosis, iron overload. Thalassemia damages your organs inside as well if not monitored and managed correctly."

—Mary Jo, living with beta-thalassemia

COMMON THALASSEMIA COMPLICATIONS

Some complications are seen more often in people who do not need more regular transfusions. But they can happen in both types.

Patients with beta-thalassemia major experience different symptoms than those with beta-thalassemia intermedia or alpha-thalassemia.

Here are some details about the most common thalassemia complications

Brittle bones

Most blood cells are made in the bone marrow (the spongy material inside bones). In patients with thalassemia, it can expand due to increased demand for red blood cells, which causes your bones to widen. This can make your bones thin and brittle, increasing the chance of broken bones.

Enlarged spleen

The spleen filters the blood by removing damaged red blood cells. It also monitors the blood for infections. Your spleen may enlarge because it is working hard.

Pulmonary hypertension

A type of high blood pressure in the lungs. The breakdown of red blood cells (hemolysis) can cause it, and so can iron overload.

Blood clots and stroke

Several things that happen in thalassemia can add up to you getting a dangerous blood clot that lodges in a blood vessel—where it can even cause a stroke. For patients who do not receive regular transfusions, this can be more common.

Rapid or irregular heartbeat

When iron deposits in the heart, the heart may try to work harder by beating faster. You may also have difficulty breathing, have some chest pain, and feel fatigued.

Liver disease

When iron deposits into the liver, it can lead to fibrosis (scarring of the liver) and cirrhosis (severe scarring that can prevent proper functioning).

Gallstones

Gallstones are one of the most prevalent complications. They are a result of hemolysis, one of the key processes driving thalassemia.

Leg ulcers

Anemia results in reduced oxygen delivery to tissues like the skin, making it easier for ulcers, or sores, to develop.

Iron overload

People with thalassemia who receive regular transfusions, as well as those who do not receive regular transfusions, can get too much iron in their bodies either from the disease or from frequent blood transfusions.

This means a lot of iron is moving around in the blood. When iron builds up, it collects in places like the heart, liver, and endocrine organs, and can make it hard for these organs to work properly.

Rethink thalassemia

With advances in medical science, understanding, and support, there's hope for managing the symptoms and monitoring the complications of thalassemia and enjoying a better quality of day-to-day living.

Recent thalassemia studies have revealed important information about patients who are not regularly transfused

“Doctors will often say I'm not sick enough...but I know there must be something I can do to feel better.”

—Real patient living with thalassemia

In a study of 53 people followed for 10 years, it was found that the people with more severe anemia were more likely to have serious health issues.

In this study, all patients had beta-thalassemia intermedia. Complications assessed and evaluated in the study included liver disease, abnormal formation of red blood cells outside of the bone marrow, diabetes, brittle bones, little to no production of sex hormones, blood clots, pulmonary hypertension, and low levels of thyroid or parathyroid hormone.

New data are emerging showing patients with alpha-thalassemia may experience similar complications to those seen in patients with beta-thalassemia.

21% of patients with hemoglobin greater than or equal to 10 g/dL had a complication. 87% of patients with hemoglobin less than 10 g/dL had a complication.

How to be proactive

Have a conversation with your doctor about what you’ve learned!

It could be helpful to get familiar with the latest guidelines for the type of thalassemia you have and discuss with your doctor.

Download the Guidelines for the Management of Non–Transfusion-Dependent Beta-Thalassaemia

Download the Guidelines for the Management of Alpha-Thalassaemia

Download the Guidelines for the Management of Transfusion Therapy for Thalassemia

Download the Comprehensive Care Checklist for Thalassemia Patients

Non-Transfusion-Dependent Thalassemia (NTDT) Monitoring Guide

Whether you have alpha- or beta-thalassemia, knowing which tests are needed can help you and your doctor prevent and manage complications. It's important to work with your care team to build a personalized management plan based on your thalassemia type and transfusion experience. Together, you can track your plan over time.

The monitoring guide below shows recommended testing and frequency for people living with non-transfusion-dependent alpha- or beta-thalassemia who are aged 18 and over. This monitoring guide was created based on input from the Thalassaemia International Federation (TIF) guidelines and a Steering Committee of leading thalassemia experts organized by Agios; these experts were compensated by Agios for their time. This information can be used in conversations with your doctor about monitoring.

Download the NTDT Monitoring Guide

Know your numbers!

Studies have shown if you have beta-thalassemia, an increase of 1 g/dL in hemoglobin may be associated with a reduced risk of serious future complications, such as stroke, organ damage, and blood clots.*

People with higher serum ferritin levels may have a higher risk of thalassemia complications. In a 10-year study of patients with non–transfusion-dependent beta-thalassemia:

800 ng/mL and up: highest risk
Above 300 to under 800 ng/mL: less risk
300 ng/mL or below: no complications

*This is not medical advice. Please consult with your doctor.

Be vocal!

Work with your doctor to monitor your symptoms. Be confident, arm yourself with knowledge, and feel empowered to ask questions. Now that you've learned new information about the risks associated with thalassemia, ask your doctor what can be done to proactively monitor your condition and prevent complications.

Explore tools for talking to your doctor

For Patients

Sign Up For Support

Get the latest thalassemia information and connect with a Clinical Nurse Educator.

Clinical Nurse Educators are employees of Agios Pharmaceuticals who work closely with individuals, families, and care teams to provide education, tools, and resources to support people living with thalassemia. They also provide opportunities to make connections with other others affected by thalassemia.

Clinical Nurse Educators do not provide medical advice. For medical advice or treatment-related questions, please talk to your healthcare team.

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References:

1. Ahmadi M, Gheibizadeh M, Rassouli M, Ebadi A, Asadizaker M, Jahanifar M. Experience of uncertainty in patients with thalassemia major: a qualitative study. Int J Hematol Oncol Stem Cell Res. 2020;14(4):237-247. doi:10.18502/ijhoscr.v14i4.4479 2. Baer K. A Guide to Living With Thalassemia. Cioffi G, Butler G, eds. Cooley’s Anemia Foundation; 2013. Accessed April 1, 2024. https://thalassemia.org/updates/pdf/GuideToLivingWithThalassemia.pdf 3. Fraidenburg DR, Machado RF. Pulmonary hypertension associated with thalassemia syndromes. Ann N Y Acad Sci. 2016;1368(1):127-139. doi:10.1111/nyas.13037 4. Gujja P, Rosing DR, Tripodi DJ, Shizukuda Y. Iron overload cardiomyopathy: better understanding of an increasing disorder. J Am Coll Cardiol. 2010;56(13):1001-1012. doi:10.1016/j.jacc.2010.03.083 5. Hashemieh M, Jafari N. Vascular brain damage in thalassemia syndrome: an emerging challenge. Iran J Child Neurol. 2022;16(1):19-29. 6. Facts about blood. John Hopkins Medicine. Accessed March 20, 2024. https://www.hopkinsmedicine.org/health/wellness-and-prevention/facts-about-blood 7. Thalassemia: symptoms & causes. Mayo Clinic. Accessed March 20, 2024. https://www.mayoclinic.org/diseases-conditions/thalassemia/symptoms-causes/syc-20354995 8. Musallam KM, Rivella S, Vichinsky E, Rachmilewitz EA. Non-transfusion-dependent thalassemias. Haematologica. 2013;98(6):833-844. 9. Musallam KM, Cappellini MD, Daar S, Taher AT. Morbidity-free survival and hemoglobin level in non-transfusion-dependent β-thalassemia: a 10-year cohort study. Ann Hematol. 2022;101(1):203-204. doi:10.1007/s00277-020-04370-2 10. Musallam KM, Vitrano A, Meloni A, et al; International Working Group on Thalassemia (IWG-THAL). Survival and causes of death in 2,033 patients with non-transfusion-dependent β-thalassemia. Haematologica. 2021;106(9):2489. doi:10.3324/haematol.2021.278684