Hypothetical Patient Profiles
Learn more about the disease and the patient burden
Thalassemia is an inherited blood disorder caused when the body doesn’t make enough hemoglobin, an important part of red blood cells. Rough projections of expected global annual births of children with thalassemia are around 60,000.1 It is estimated that about one million individuals need blood transfusion yearly.3 Thalassemia can cause anemia, resulting in fatigue. Some children show signs and symptoms of thalassemia at birth; others develop them during the first two years of life.4
People with mild thalassemia might not need treatment, but more severe forms require regular blood transfusions.5 Some people could receive transfusions every few weeks. Over time, blood transfusions cause a buildup of iron in blood, which can damage the heart, liver and other organs.6 In the most severe forms of one type of thalassemia (beta thalassemia), unless anemia is corrected regularly by blood transfusions, the patient will die early in life, mostly in infancy.7 Thalassemia occurs across the globe, but is most prevalent among Italians, Greeks, Cypriots, Sardinians and others in the Mediterranean region.8
1. M. Angastiniotis, S. Lobitz, Intl. J. of Neonatal Screening. “Thalassemias: An Overview.” 2019, 5(1), 16. 2 Modeling based on epidemiology, demographics, mortality. 3. Centers for Disease Control and Prevention (CDC). “Thalassemia.” https://www.cdc.gov/ncbddd/thalassemia. Accessed October 2020. 4. FactDr.com. “Thalassemia.” https://factdr.com/health-conditions/thalassemia. Accessed October 2020. 5. Mayo Clinic. “Thalassemia, Symptoms & Causes.” https://www.mayoclinic.org/diseases-conditions/thalassemia/symptoms-causes/syc-20354995. Accessed October 2020. 6. Mayo Clinic. “Thalassemia, Diagnosis & Treatment.” https://www.mayoclinic.org/diseases-conditions/thalassemia/diagnosis-treatment/drc-20355001. Accessed October 2020. 7. Thalassaemia International Federation. https://thalassaemia.org.cy/haemoglobin-disorders/thalassaemia. 8. UCSF Benioff Children’s Hospital Oakland. “The Demographics of Thalassemia.” https://www.thalassemia.com/demographics.aspx.
Angelo was first diagnosed with thalassemia major at the age of two, and for the past 16 years he has received excellent medical care in the pediatric practice of a large thalassemia center of excellence in New York City.
Now, as a college freshman in Indiana, the level of care he will receive will not equal what he had received at home. He is also concerned about how he will balance the increased responsibilities of college with managing his disease and time-consuming transfusion appointments which can take up to seven or eight hours in a day.
CURRENT MEDICAL HISTORY
- Thalassemic facies
- Delay of growth
- Enlarged heart
- Receives 2 units of red blood cells every other week
- Daily oral chelation treatment for iron overload
- Hopes to find same level of care with new treatment center
- Reducing the number of transfusions needed
- Wants to fit in with normal college life and join a fraternity
Maria worries about her disease and her future. She has many concerns about her health risks—most notably, her risk of liver, heart, bone, and hormone problems as a result of the iron overload associated with her chronic transfusions.
She would like to have children but worries her children will be born with thalassemia. Maria and her husband would like to get genetic testing to confirm whether their child would be born with the disease.
CURRENT MEDICAL HISTORY
- Diagnosed with thalassemia major at 20 months old
- Suffers from anxiety and depression
- Experiences side-effects from chelation therapy such as nausea and diarrhea
- Takes daily medication for anxiety and depression
- Requires 2-3 units of RBCs every 3 weeks
- Trying new oral iron chelation therapy to see if it will reduce side effects
- Better understanding from family and friends of the emotional burden of the disease
- Become less dependent on iron chelation therapy
- Would like more energy to take long hikes
Omar never wanted to settle for second-rate care. He spent a lot of time researching before he found an experienced treatment center that he trusted. He does not mind driving more than an hour each way in order to receive better medical care.
He manages his treatments, taking days off to receive his transfusions, while maintaining a successful career and being an involved husband and father.
CURRENT MEDICAL HISTORY
- Alloimmunization—alloantibody Anti-Kell
- Weak heart due to sustained levels of iron overload
- Bone and joint pain
- Receives blood transfusions every two weeks
- Pre-medication at each transfusion
- Oral chelation therapy
- Reduce the number of blood transfusions
- Lower the amount of free iron in his body so that he can stop chelation therapy
- Be pain free and enjoy activities of daily living