Sickle Cell Disease

  • Sickle cell disease (SCD) is a serious, progressively debilitating, and life-threatening genetic disease caused by production of abnormal hemoglobin, called sickle hemoglobin, in red blood cells.
    • Sickle hemoglobin tends to stick together, causing red blood cells to take on a characteristic sickle shape, become stickier and inflexible and have a shortened lifespan. This results in severe anemia, blockage of blood vessels (called vaso-occlusion) accompanied by severe and unpredictable pain, and long-term blood vessel dysfunction (called vasculopathy). These lead to additional serious medical problems such as organ failure, reduce overall life expectancy, and reduce quality of life.
    • Vaso-occlusion in some organs and other acute complications, such as stroke and infections, have the potential to cause death at any age.
    • Repeated vaso-occlusion, chronic hemolytic anemia, and persistent vasculopathy can progressively lead to damage of any organ system and are the primary cause of morbidity and mortality in adults with SCD.
  • There are no broadly accessible treatments that eliminate acute complications of SCD or prevent organ damage. Currently, patients need comprehensive care that includes screening for disease-related risks, infection prevention, pain management, and chronic therapies and chronic transfusions.
  • Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is currently the only potentially curative treatment option for patients with SCD. However, its use is currently limited to a minority of pediatric patients with severe disease who have an unaffected HLA-matched sibling donor. Even then, there are risks of transplant-related mortality, graft failure and severe immunological complications such as GVHD.
  • Given the lifelong need for comprehensive care, considerable healthcare resource utilization, and high rates of hospitalizations and ER admissions due to severe and unpredictable pain crises, SCD represents a significant public health burden.

You can find more information about BMT and SCD by visiting patient resources.