ASH Priorities for Sickle Cell Disease and Sickle Cell Trait

Sickle cell disease (SCD) is the most common inherited red blood cell disorder in the United States, affecting 70,000-100,000 Americans^{1, 2}. Although the molecular basis of SCD was established several decades ago, it has been challenging to translate this knowledge into the development of novel targeted therapies. As recently as the 1960s, this disease was described as a disorder of childhood, because patients rarely survived their teenage years. Today most SCD patients can expect to live into adulthood, but the cost of care and the burden of pain, end-organ injury, and premature death remain high.

New approaches in managing this disease have improved diagnosis and supportive care over the last few decades, but many patients still have severe complications to overcome. The future of care for SCD patients will be dependent on advanced and highly targeted approaches to research, discovery, and implementation of proven and new interventions.

To ensure that patients with SCD receive state of the art care, the American Society of Hematology (ASH) developed the following list of the top research and training priorities for the next five years. The list includes remaining unaddressed questions and specific research topics that could really move the field forward with the hope of curing SCD in the future. The priorities are not listed in rank order. ASH encourages the SCD stakeholder community to use multi-disciplinary approaches support these important areas. Given the broad benefits that will be derived from additional research and training of SCD workforce, stakeholder organizations should coordinate their funding in order to produce the greatest impact. A multi-agency approach would deliver advances faster, more economically, and more efficiently to patients suffering from this debilitating disease in the United States and the world.

For additional information please contact ASH Government Relations and Practice Manager, Stephanie Kaplan, at [email protected] or (202) 776-0544.

1. Research Priorities
   1. Identify Predictors of Disease Severity
   2. Optimize the Use of Existing Therapies
   3. Develop Novel Therapies
   4. Strengthen Curative Therapies
   5. Enhance Pain Research
   6. Improve Access to Evidence-Based Care Through Innovative Healthcare Delivery Models
   7. Determine the Effects of Quality of Care on Quality of Life
   8. Investment in Sickle Cell Trait Research
2. Other Priorities
   1. Expand Global Initiatives
   2. Support a Sustainable SCD Workforce

There remains a critical need for research and training strategies to improve SCD treatment. ASH encourages funding agencies to invest in the priorities outlined in this document to work towards the common goal of providing excellent individualized care for patients living with SCD, and eventually developing a cure for this debilitating disease.

References

1. SCD refers to blood disorders where sickle hemoglobin HbS is the predominant hemoglobin within the erythrocytes. The most prevalent SCD genotype is homozygous hemoglobin SS (HbSS), along with the compound heterozygous conditions hemoglobin Sβ0-thalassemia (HbSβ0-thalassemia), hemoglobin Sβ+-thalassemia (HbSβ+-thalassemia), and hemoglobin SC disease (HbSC). HbSS and HbSβ0-thalassemia are clinically very similar and therefore are commonly referred to as sickle cell anemia (SCA). In contrast, HbAS (sickle cell trait, a carrier state) is not a form of SCD.
2. Am J Prev Med. 2010 Apr;38(4 Suppl):S512-21. doi: 10.1016/j.amepre.2009.12.022