Goal 2: Reduce Human Disease

Assess the true impact of sickle cell trait on cardiovascular health across then age spectrum

Sickle cell disease is now understood as a disease of inflammation in addition to abnormal red blood cells. It is likely persons with sickle cell trait are also negatively affected by the damage caused by inflammation. There is a significant racial disparity in hypertension, stroke, and chronic kidney disease. It remains unclear the degree to which sickle cell trait contributes to this disparity. It also remains unclear whether those with sickle cell trait may also have symptoms similar to persons with sickle cell disease.

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Is this idea a Compelling Question (CQ) or Critical Challenge (CC)? : Compelling Question (CQ)

Details on the impact of addressing this CQ or CC :

Recent evidence in the United States emphasizes the possible health risks for individuals with HbAS including increased incidence

of renal failure and malignancy, thromboembolic disorders, splenic infarction as a high altitude complication, and exercise-related sudden death. Additional concerns include the increase risk of hypertension from endothelial scaring and additional vascular abnormalities. Early preventative therapies for persons with HbAS (sickle cell trait) could reduce the progression of cardiovascular disease in manny individuals if found to be of concern.

Feasibility and challenges of addressing this CQ or CC :

1. Several identified impediments to research of sickle cell trait have included under-representation of the African– American community in preclinical and translational research projects and limited study in health disparities research (Am J Hematol . 2012 March ; 87(3): 340–346).

2. Ethical considerations in screening athletes and other individuals seeking labor intensive occupations for sickle cell trait

3. The diagnosis of the carrier state for a genetic disease may be associated with serious health problems that can lead to widespread bioethical and social stigmatization and additional concerns including the increased need for testing and counseling

Name of idea submitter and other team members who worked on this idea : Julie Kanter

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Idea No. 545