SICKLE CELL ANEMIA TRIO PRENATAL MUTATION DETECTION

SICKLE CELL ANEMIA IS A MULTISYSTEM DISEASE ASSOCIATED WITH EPISODES OF ACUTE ILLNESS AND PROGRESSIVE ORGAN DAMAGE. HEMOGLOBIN POLYMERIZATION, LEADING TO ERYTHROCYTE RIGIDITY AND VASO-OCCLUSION, IS CENTRAL TO THE PATHOPHYSIOLOGY OF THE DISEASE, BUT THE IMPORTANCE OF CHRONIC ANEMIA, HEMOLYSIS, AND VASCULOPATHY HAS BEEN ESTABLISHED. THE MOST COMMON CAUSE OF SICKLE CELL ANEMIA IS THE HBS VARIANT. THIS TEST IS USEFUL FOR DETECTION OF MUTATIONS IN THE HBB GENE LINKED TO SICKLE CELL ANEMIA. THIS ASSAY CHECK FOR MATERNAL CELL CONTAMINATION IN AMNIOTIC FLUID.