Clinical Information

Hemolytic anemia (HA) is characterized by increased red cell destruction and a decreased red cell life span. Patients usually have decreased hemoglobin concentration, hematocrit, and red blood cell count, but some can have compensated disorders, and symptoms such as reticulocytosis, pigmented gallstones, and decreased haptoglobin are factors that raise clinical suspicion. Blood smear abnormalities may include variable amounts of poikilocytosis including spherocytes, elliptocytes, schistocytes, stomatocytes, echinocytes, polychromasia, basophilic stippling, and target cells. Osmotic fragility can be increased due to the presence of spherocytes. These are all nonspecific features that can be present in both hereditary and acquired hemolytic disorders.

Inherited hemolytic disorders may include red cell membrane disorders, red cell enzyme defects, or abnormalities in the hemoglobin molecule in the red cell. This panel assesses for possible causes of congenital/hereditary causes of hemolytic anemia and does not evaluate for acquired causes. Therefore, the anemia should be lifelong or familial in nature. Examples of acquired HA (which should be excluded prior to ordering this panel) include: autoimmune HA (Coombs-positive HA, Coombs-negative autoimmune HA), cold agglutinin disease, paroxysmal nocturnal hemoglobinuria, paroxysmal cold hemoglobinuria, mechanical hemolysis (aortic stenosis or prosthetic heart valves), disseminated intravascular coagulation/thrombotic microangiopathy, and drug-induced HA.

This consultation evaluates for a hereditary cause of increased red cell destruction and includes testing for red cell membrane disorders, such as hereditary spherocytosis and hereditary pyropoikilocytosis, hemoglobinopathies, and red cell enzyme abnormalities.

This panel is of limited use in patients with a history of recent transfusion and should be ordered as remote a date from transfusion as possible in those patients who are chronically transfused.