Sickle cell disease (SCD), a devastating inherited blood disorder, is caused by a point mutation in the β-globin chain of hemoglobin. Despite knowledge of the molecular defect associated with sickle hemoglobin (HbS), preventative approaches or mechanism-specific treatment options for the disease are lacking. Metabolon’s biochemical profiling technology was used to understand the molecular events involved in the pathogenesis of red blood cell sickling, so that novel therapeutic strategies to treat this disease can be developed. Adenosine was discovered to be highly elevated in the blood of SCD transgenic mice. Lowering adenosine concentrations significantly reduced sickling, hemolysis and multiple organ damage in the mice. Thus, these findings demonstrate the power of Metabolon’s global profiling technology to understand the underlying disease mechanism and to identify novel therapeutic possibilities to treat and prevent damage resulting from SCD.
Copies of the paper can be accessed: http://www.nature.com/nm/journal/vaop/ncurrent/full/nm.2280.html