Factor VIII and vWF: Ag was measured using 1-stage clotting assay and immunoassay respectively (normal values 50–150%). We applied FRET (fluorescence resonance energy transfer) technique to measure ADAMTS13 activity (normal values>65%). The clinical phenotype was mild in 12 patients, moderate in 3 and 7 were suffering from severe symptoms (history of frequent vaso-occlusive and acute chest crises and need for regular exchange transfusion).
Of them, 3 were in homozygous state(HbSS) and 19 were compound heterozygous for thalassamia β(HbS/β +, HbS/β 0). We studied 22 steady state patients (9 men/13 women) with a median age of 35(22–74) years. For this purpose we measured the activity of the enzyme and looked for any correlations with regard to the clinical phenotype of patients with SCD. We hypothesized that a possible defect in the cleavage of large vWF multimers through the protease ADAMTS13 could add further to the well established chronic activation of the endothelium and consequently to the severity of the disease. Endothelial damage is one of the major mechanisms causing most of the manifestations in sickle cell disease (SCD).
0 kommentar(er)
