Introduction Thrombophilia refers to the propensity to develop thrombosis and can be a result of acquired and/or inherited conditions. Inherited conditions are usually identified by a blood test, where acquired conditions are characterized by a patient’s clinical state or associated…
Sickle cell disease (SCD) results from a single base pair change in the β-globin subunit, yet the downstream effects and complex manifestations that result are protean and variable. The abnormal HbS is insoluble when deoxygenated and polymerizes causing deformation of…
Factor XI (FXI) deficiency, was first described in 1953. It is characterized by a highly variable bleeding phenotype. Some patients have no apparent excessive bleeding while others have more substantial bleeding. In contrast to other coagulation factor deficiencies, excessive bleeding…