Protein and Post-Translational Modifi cation Markers in Sickle Cell Disease

摘要

Despite many advances in t he care of patients with sickle cell anemia (homozygous HbS mutation, HBB glu6val)(SCD), the median age of death remains in the 5th decade. Furthermore, pulmonary hypertension (PH) of SCD is associated with an increased risk in mortality. One explanation for increased mortality is diffuse systemic vasculopathy, the pathogenesis of which is multi-factorial. Altered redox bi ology is also an important disease modifier in SCD, one that is believed to play a role in ch anges in protein posttranslational modifications (PTMs). Here we aim to identify a plasma protein and PTM signature profile reflective of PH and pulmonary vasculopathy related to sickle cell disease. The specificity of detecting biomarkers will be enhanced by targeting both protein and PTM changes.