Transitioning From Pediatric to Adult Care for Beta-Thalassemia

Patients with beta-thalassemia major (also known as Cooley’s anemia) have a reduction or absence of beta protein in their hemoglobin, resulting in severe anemia, which requires regular blood transfusions beginning early in childhood. These lifelong transfusions lead to iron overload, which requires chelation therapy to prevent organ failure.

Historically, thalassemia was considered a pediatric condition due to reduced life expectancy, but the practice of routine blood transfusions, along with the improved approaches to iron chelation, have resulted in a significant improvement in prognosis over the last several decades.

Consequently, “patients living in areas where disease-specific programs offering access to modern therapy are in place experience a new era of prolonged survival that tends to reach that of the normal population,” wrote the authors of a 2020 review in the European Journal of Haematology.

According to a recent systematic analysis, the worldwide prevalence of thalassemia was estimated to be 1.3 million in 2021, with the highest rates seen in East and Southeast Asia, the Middle East, and the Mediterranean, and much lower rates in Western Europe and North America.

The authors of that study estimated that the number of cases in the U.S. was in the vicinity of 4,000 in 2021, although “that is probably an underestimate,” Janet Kwiatkowski, MD, director of the Thalassemia Center at the Children’s Hospital of Philadelphia, told MedPage Today. “We are now seeing a larger number of pediatric patients with thalassemia due to increasing numbers of international adoptions and immigration patterns.”

“Fortunately, our care for individuals with thalassemia has really improved and individuals are living long lives, so transition [to adult care] is becoming important,” she noted.

“Transition is a lifelong process, but we typically start more formally at the age of 12 or 13, with education that is appropriate for the child’s age,” Kwiatkowski said. “And as they get older we can continue to educate them further, so we can increase their knowledge and readiness up to the time they transition.”

“We have — and I believe many programs have — transition-readiness checklists that are age appropriate,” she added.

The American Society of Hematology has issued a number of transition-readiness assessment templates for hematologic diseases, including one for thalassemia, which is intended to help assess pediatric patients’ knowledge about the disease and its management.

Kwiatkowski explained that these checklists will ask younger children if they know what kind of thalassemia they have, what their blood type is, why they get transfusions, what medications they get, and what those medications are for. When this knowledge is lacking, patient education can be targeted to those particular areas.

“And as they get older, the questions will change,” she said. “Do they understand insurance? Do they know how to get their medications? Do they know what specialists they need to see?”

Age-Related Complications

“Some things stay fairly consistent,” Kwiatkowski said. “If patients have transfusion-dependent thalassemia, they need to have transfusions scheduled, and they need to take their iron chelation medications.”

In addition, both children and adults need to be monitored for iron load in crucial organs, with T2* cardiac MRI studies considered to be a reliable method for assessing iron load in the heart and liver.

However, the risk of complications associated with the treatment of thalassemia will change as children transition into adulthood.

In an article in Blood, researchers noted that cardiac complications in patients with beta-thalassemia, such as heart failure and arrhythmias, can be detected in early adulthood, with that risk increasing as patients age. Moreover, they pointed out that signs of hepatic enzymes that increase secondary to iron overload can be detected at any age, while evidence of hepatic diseases such as fibrosis, cirrhosis, or liver cancer is more common in adults.

“Close and regular monitoring for clinical complications can ensure early detection, specialist consultation, and intervention,” they wrote.

Barriers to Successful Transition

According to Kwiatkowski, the biggest barrier to an effective transition for individuals with thalassemia is a lack of providers who have the knowledge and expertise to care for adult patients with thalassemia.

“For a very long time, thalassemia patients didn’t transition,” she said. “They just continued to get their care at pediatric hospitals. And that is actually still true in many hospitals where the transition is less of one from one provider to another, and more of a transition from the parent or guardian being the primary person responsible for making medical decisions, to making the patient responsible.”

In a survey of 105 patients in North America ages 25 to 44 with severe thalassemia, about one-third remained under the care of a pediatric hematologist.

These respondents reported that there were more thalassemia-related services available at their healthcare facility, as well as better access to flexible hours for blood transfusions and higher satisfaction with their care.

In the case of Kwiatkowski’s institution, it partners with the Penn Comprehensive Adult Thalassemia Program at the Hospital of the University of Pennsylvania.

“We’re fortunate we are able to transition patients to providers with the knowledge and expertise to provide MRI monitoring, do appropriate blood matching, and take on the volume of transfusions that need to be administered to patients with thalassemia,” she said

For those practitioners and patients who are struggling with finding suitable adult care, advocacy organizations such as Cooley’s Anemia Foundation can help.