Unraveling the hidden impacts of sickle cell disease and beta thalassemia
Sickle cell disease (SCD) and transfusion-dependent beta thalassemia (TDT) are genetic blood disorders affecting millions of people worldwide. And while the physical and medical implications of living with SCD and TDT have been documented, few studies have assessed the broader disease impacts, such as work productivity, academic success and financial concerns. These quality-of-life disruptions can go unnoticed — but for those living with SCD and TDT, managing their disease can mean a lifetime of challenges extending well beyond their physical disease symptoms. At Vertex Pharmaceuticals, our Health Economics and Outcomes Research (HEOR) team set out to better understand the profound, yet often overlooked, challenges facing these patient communities. In HEOR we refer to patients’ personal, familial and societal impacts as “humanistic burden.” You can read firsthand accounts of the lived experiences of people with SCD and TDT here. As part of our research, we gathered qualitative and quantitative data to shed light on the long shadow cast by the daily burden of managing these diseases. The results of these studies are striking. Despite receiving currently available treatments, people with SCD and TDT continue to experience substantial and sustained humanistic burden that can drastically impact their quality of life, careers, education and financial stability. Education interrupted Managing a chronic illness like SCD or TDT can interfere with a person’s academic progress, presenting unique challenges at various stages. Children and adolescents living with SCD may need to take frequent absences from school due to pain crises, infections and hospitalizations. Those with TDT may need frequent absences to receive blood transfusions and can struggle to concentrate in class due to frequent fatigue. These roadblocks can lead to falling behind in coursework and difficulty keeping up with their peers, which can ultimately affect educational attainment. These communities face additional hurdles when pursuing higher education. The unpredictable nature of SCD and TDT can make it challenging to meet attendance requirements and sustain consistent academic performance. As a result, pursuing a degree may take longer or even be impossible, impacting career prospects and financial stability. Career struggles and missed opportunities For those living with SCD and TDT, establishing and maintaining a successful career can be a constant battle. Frequent medical appointments, hospital visits and unpredictable health crises can lead to an inability to consistently work, the need for extended medical leave, and a reduction in the hours worked — and for some, the inability to maintain employment or work at all. These impacts can limit employment options and create substantial obstacles for professional growth. As a result, career aspirations may be thwarted, and financial stability becomes a major concern.