At a Glance PNH is a rare, acquired stem cell disorder that results in episodic intravascular hemolysis, hemoglobinuria, hemolysis, and venous thrombosis. A somatic mutation causes loss of cell surface linkage proteins, which results in loss of complement regulatory proteins on the red blood cell surface. PNH may occur de novo, but it is also…
At a Glance Pyruvate kinase deficiency (PKD) is an autosomally recessive inherited disease that produces ineffective conversion of phosphoenolpyruvate in the Embden-Meyerhof Pathway, resulting in decreased production of ATP. It is the second most frequent enzymatic defect after G-6-P-D deficiency. Since red blood cells (RBCs) are incapable of producing ATP through oxidative mechanisms, the presence…
At a Glance Anemia of chronic disease (ACD) is second in frequency as a common cause of anemia, with iron deficiency anemia being the most frequent cause of anemia. In some clinical circumstances, such as in cancer clinics, ACD is the most common presentation. The chronic diseases most frequently associated with this type of anemia…
